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HUNTINGTON DISEASE PATHWAY (PW:0000017)

View Ontology Report

Description

Huntington disease (HD) is an autosomal dominant neurodegenerative condition manifested in movement, cognitive and psychiatric symptoms. HD is associated with the abnormal expansion of a trinucleotide (CAG) repeat in the huntingtin (HTT) gene translating into an expanded stretch of glutamine residues (polyQ), conferring aberrant conformational propensities. Between 9 to 35 repeats are normally found in the wild-type protein/non-HD population. Mutant HTT proteins (mHTT) have over 36 repeats; havi

Pathway Diagram:

Elsevier Inc. potential HD lncRNA ---> Huntington Disease QUIN ---> Huntington Disease potential HD lncRNA upregulated miRNA upregulated miRNA ---> downregulated target translation downregulated target translation downregulated miRNA ---> upregulated target translation downregulated miRNA upregulated target translation potential HD miRNA ex-Grin2b loss of projecting cortical neurons potential HD miRNA ---> Huntington Disease loss of striatal SPNs Huntington Disease QUIN Grin2b D2 SPNs D1 SPNs brain-derived neurotrophic factor signaling pathway Dnm1l KYNA 3-HANA 3-HK kynurenine metabolic pathway microglia astrocyte neuroinflammatory responses --+> microglia HTT interacting proteins shorter, toxic fragments cell homeostasis transcription vesicular trafficking Rest ---| BDNF transcription Rest Htt ---> cell homeostasis Rasd2 interacting proteins Htt DNA modification pathway dorsal striatal SPNs neurons mHtt Casp6 1-586 fragment NMDAR-mediated excitotoxicity Ntrk2 mHtt ---- Rasd2 neuroinflammatory responses polyQ RNA polymerase II transcription pathway histone modification pathway electron transport chain pathway autophagy pathway Htt ---> transcription Htt ---> mitochondria function Htt ---> vesicular trafficking mHtt ---| BDNF transcription Bdnf BDNF transcription Bdnf ---- Ntrk2 BDNF transport aa1-17 mitochondria function Casp6 ---> PRD mitochondria dynamics pathway mHtt ---| Rasd2 Rasd2 ---- Rasd2 interacting proteins brain-derived neurotrophic factor signaling pathway ---> D1 SPNs Rasd2 brain-derived neurotrophic factor signaling pathway --+> D2 SPNs mHtt ---| electron transport chain pathway mHtt ---| autophagy pathway Crebbp brain-derived neurotrophic factor signaling pathway ---> dorsal striatal SPNs neurons mHtt ---| mitochondria dynamics pathway Htt ---- HTT interacting proteins HTT interacting proteins ---- mHtt Rasd2 ---> mHtt Htt ---| Rest mHtt ---| brain-derived neurotrophic factor signaling pathway mHtt ---| BDNF transport Htt --+> BDNF transport Crebbp ---> histone modification pathway Crebbp ---> RNA polymerase II transcription pathway Crebbp ---> DNA modification pathway mHtt ---| Crebbp Crebbp ---- mHtt Dnm1l ---- mHtt aa69-3144, HEAT repeat domains, PEST domains in disordered regions polyQ ---> Htt polyQ ---> mHtt mHtt ---> ex-Grin2b mHtt ---> Huntington Disease PRD
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Genes in Pathway:


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Huntington's disease pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap2a1 adaptor related protein complex 2 subunit alpha 1 IEA KEGG rno:05016 NCBI chr 1:95,384,306...95,414,170
Ensembl chr 1:95,384,309...95,414,147
JBrowse link
G Ap2a2 adaptor related protein complex 2 subunit alpha 2 IEA KEGG rno:05016 NCBI chr 1:196,652,315...196,725,609
Ensembl chr 1:196,652,337...196,725,603
JBrowse link
G Ap2b1 adaptor related protein complex 2 subunit beta 1 IEA KEGG rno:05016 NCBI chr10:68,099,397...68,205,023
Ensembl chr10:68,099,547...68,205,013
JBrowse link
G Ap2m1 adaptor related protein complex 2 subunit mu 1 IEA KEGG rno:05016 NCBI chr11:80,355,307...80,364,218
Ensembl chr11:80,328,041...80,364,140
JBrowse link
G Ap2s1 adaptor related protein complex 2 subunit sigma 1 IEA KEGG rno:05016 NCBI chr 1:77,417,496...77,428,903
Ensembl chr 1:77,417,477...77,428,905
JBrowse link
G Apaf1 apoptotic peptidase activating factor 1 IEA KEGG rno:05016 NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540
JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha IEA KEGG rno:05016 NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
JBrowse link
G Atp5f1b ATP synthase F1 subunit beta IEA KEGG rno:05016 NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
JBrowse link
G Atp5f1c ATP synthase F1 subunit gamma IEA KEGG rno:05016 NCBI chr17:68,423,927...68,446,169
Ensembl chr17:68,423,909...68,608,367
JBrowse link
G Atp5f1d ATP synthase F1 subunit delta IEA KEGG rno:05016 NCBI chr 7:9,560,604...9,565,919
Ensembl chr 7:9,560,608...9,565,929
JBrowse link
G Atp5f1e ATP synthase F1 subunit epsilon IEA KEGG rno:05016 NCBI chr 3:163,259,072...163,261,974
Ensembl chr 3:163,260,476...163,261,450
JBrowse link
G Atp5hl1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d-like 1 IEA KEGG rno:05016 NCBI chr16:48,628,349...48,628,948
Ensembl chr16:48,628,407...48,628,892
JBrowse link
G Atp5mc1 ATP synthase membrane subunit c locus 1 IEA KEGG rno:05016 NCBI chr10:81,024,056...81,026,780
Ensembl chr10:81,023,925...81,027,124
Ensembl chr10:81,023,925...81,027,124
JBrowse link
G Atp5mc1l2 ATP synthase membrane subunit c locus 1 like 2 IEA KEGG rno:05016 NCBI chr 6:66,654,187...66,654,763
Ensembl chr 6:66,654,294...66,654,692
JBrowse link
G Atp5mc2 ATP synthase membrane subunit c locus 2 IEA KEGG rno:05016 NCBI chr 7:133,791,341...133,799,713
Ensembl chr 7:133,791,342...133,799,733
JBrowse link
G Atp5mc3 ATP synthase membrane subunit c locus 3 IEA KEGG rno:05016 NCBI chr 3:58,810,535...58,813,185
Ensembl chr 3:58,810,535...58,814,279
JBrowse link
G Atp5pb ATP synthase peripheral stalk-membrane subunit b IEA KEGG rno:05016 NCBI chr 2:193,424,138...193,435,418
Ensembl chr 2:193,424,047...193,435,418
JBrowse link
G Atp5pd ATP synthase peripheral stalk subunit d IEA KEGG rno:05016 NCBI chr10:100,657,700...100,662,960
Ensembl chr10:100,657,708...100,663,479
JBrowse link
G Atp5pf ATP synthase peripheral stalk subunit F6 IEA KEGG rno:05016 NCBI chr11:23,881,594...23,889,581
Ensembl chr11:23,881,592...23,889,119
JBrowse link
G Atp5po ATP synthase peripheral stalk subunit OSCP IEA KEGG rno:05016 NCBI chr11:31,165,218...31,171,530
Ensembl chr11:31,165,217...31,171,592
JBrowse link
G Bax BCL2 associated X, apoptosis regulator IEA KEGG rno:05016 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bbc3 Bcl-2 binding component 3 IEA KEGG rno:05016 NCBI chr 1:77,013,281...77,022,509
Ensembl chr 1:77,014,543...77,022,509
JBrowse link
G Bdnf brain-derived neurotrophic factor IEA KEGG rno:05016 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Casp3 caspase 3 IEA KEGG rno:05016 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp8 caspase 8 IEA KEGG rno:05016 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Casp9 caspase 9 IEA KEGG rno:05016 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
JBrowse link
G Clta clathrin, light chain A IEA KEGG rno:05016 NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
JBrowse link
G Cltb clathrin, light chain B IEA KEGG rno:05016 NCBI chr17:10,001,512...10,019,201
Ensembl chr17:10,001,513...10,019,169
JBrowse link
G Cltc clathrin heavy chain IEA KEGG rno:05016 NCBI chr10:71,517,661...71,574,591
Ensembl chr10:71,517,663...71,573,737
JBrowse link
G Cox4i1 cytochrome c oxidase subunit 4i1 IEA KEGG rno:05016 NCBI chr19:48,721,680...48,727,920
Ensembl chr19:48,721,199...48,727,921
JBrowse link
G Cox4i2 cytochrome c oxidase subunit 4i2 IEA KEGG rno:05016 NCBI chr 3:141,228,443...141,239,337
Ensembl chr 3:141,228,443...141,239,331
JBrowse link
G Cox5a cytochrome c oxidase subunit 5A IEA KEGG rno:05016 NCBI chr 8:57,922,374...57,933,781
Ensembl chr 8:57,922,290...57,933,781
JBrowse link
G Cox5b cytochrome c oxidase subunit 5B IEA KEGG rno:05016 NCBI chr 9:38,921,980...38,923,806
Ensembl chr 9:38,921,967...38,925,052
JBrowse link
G Cox6a1 cytochrome c oxidase subunit 6A1 IEA KEGG rno:05016 NCBI chr12:41,261,983...41,265,037
Ensembl chr12:41,261,967...41,265,041
JBrowse link
G Cox6a2 cytochrome c oxidase subunit 6A2 IEA KEGG rno:05016 NCBI chr 1:182,788,528...182,790,746
Ensembl chr 1:182,788,528...182,789,274
JBrowse link
G Cox6b1 cytochrome c oxidase subunit 6B1 IEA KEGG rno:05016 NCBI chr 1:85,875,080...85,884,081
Ensembl chr 1:85,875,109...85,884,001
Ensembl chr 2:85,875,109...85,884,001
JBrowse link
G Cox6b2 cytochrome c oxidase subunit 6B2 IEA KEGG rno:05016 NCBI chr 1:69,094,009...69,095,312 JBrowse link
G Cox6c cytochrome c oxidase subunit 6C IEA KEGG rno:05016 NCBI chr 7:67,129,265...67,142,001
Ensembl chr 7:67,111,024...67,141,963
JBrowse link
G Cox7a2 cytochrome c oxidase subunit 7A2 IEA KEGG rno:05016 NCBI chr 8:80,716,824...80,720,922
Ensembl chr14:51,301,168...51,301,633
Ensembl chr 8:51,301,168...51,301,633
JBrowse link
G Cox7a2l cytochrome c oxidase subunit 7A2 like IEA KEGG rno:05016 NCBI chr 6:11,184,064...11,198,287
Ensembl chr 6:11,184,285...11,198,273
JBrowse link
G Cox7a2l2 cytochrome c oxidase subunit VIIa polypeptide 2-like 2 IEA KEGG rno:05016 NCBI chr14:51,301,169...51,301,612
Ensembl chr14:51,301,168...51,301,633
Ensembl chr 8:51,301,168...51,301,633
JBrowse link
G Cox7b cytochrome c oxidase subunit 7B IEA KEGG rno:05016 NCBI chr  X:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732
JBrowse link
G Cox7c cytochrome c oxidase subunit 7C IEA KEGG rno:05016 NCBI chr 2:16,841,771...16,843,796
Ensembl chr 2:16,840,837...16,843,760
JBrowse link
G Cox8a cytochrome c oxidase subunit 8A IEA KEGG rno:05016 NCBI chr 1:204,402,118...204,404,439 JBrowse link
G Cox8b cytochrome c oxidase, subunit VIIIb IEA KEGG rno:05016 NCBI chr 1:195,977,183...195,978,643 JBrowse link
G Cox8c cytochrome c oxidase subunit 8C IEA KEGG rno:05016 NCBI chr 6:122,028,566...122,029,889
Ensembl chr 6:122,028,566...122,029,889
JBrowse link
G Creb1 cAMP responsive element binding protein 1 IEA KEGG rno:05016 NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
JBrowse link
G Creb3l1 cAMP responsive element binding protein 3-like 1 IEA KEGG rno:05016 NCBI chr 3:77,952,589...77,993,513
Ensembl chr 3:77,952,540...77,993,456
JBrowse link
G Creb3l2 cAMP responsive element binding protein 3-like 2 IEA KEGG rno:05016 NCBI chr 4:65,907,570...66,112,078
Ensembl chr 4:65,907,655...66,023,763
JBrowse link
G Creb3l3 cAMP responsive element binding protein 3-like 3 IEA KEGG rno:05016 NCBI chr 7:8,622,614...8,631,053
Ensembl chr 7:8,622,614...8,631,048
JBrowse link
G Creb3l4 cAMP responsive element binding protein 3-like 4 IEA KEGG rno:05016 NCBI chr 2:175,690,340...175,695,846
Ensembl chr 2:175,690,335...175,695,932
JBrowse link
G Crebbp CREB binding protein IEA KEGG rno:05016 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Cyc1 cytochrome c-1 IEA KEGG rno:05016 NCBI chr 7:108,067,106...108,069,483
Ensembl chr 7:108,067,115...108,069,479
JBrowse link
G Cycs cytochrome c, somatic IEA KEGG rno:05016 NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
Ensembl chr18:79,651,378...79,654,054
JBrowse link
G Cyct cytochrome c, testis IEA KEGG rno:05016 NCBI chr 3:61,290,090...61,297,158
Ensembl chr 3:60,913,562...61,297,158
JBrowse link
G Dctn1 dynactin subunit 1 IEA KEGG rno:05016 NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
JBrowse link
G Dctn2 dynactin subunit 2 IEA KEGG rno:05016 NCBI chr 7:63,092,061...63,107,560
Ensembl chr 7:63,092,057...63,108,543
JBrowse link
G Dctn4 dynactin subunit 4 IEA KEGG rno:05016 NCBI chr18:53,982,355...54,009,409
Ensembl chr18:53,982,358...54,009,399
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 IEA KEGG rno:05016 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 IEA KEGG rno:05016 NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 IEA KEGG rno:05016 NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298
JBrowse link
G Dnah3 dynein, axonemal, heavy chain 3 IEA KEGG rno:05016 NCBI chr 1:174,305,929...174,479,490
Ensembl chr 1:174,306,644...174,479,474
JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 IEA KEGG rno:05016 NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
JBrowse link
G Dnai2 dynein, axonemal, intermediate chain 2 IEA KEGG rno:05016 NCBI chr10:99,759,966...99,793,379
Ensembl chr10:99,759,966...99,793,378
JBrowse link
G Dnal1 dynein, axonemal, light chain 1 IEA KEGG rno:05016 NCBI chr 6:103,747,801...103,779,015
Ensembl chr 6:103,747,753...103,778,878
JBrowse link
G Dnal4 dynein, axonemal, light chain 4 IEA KEGG rno:05016 NCBI chr 7:111,312,424...111,325,283
Ensembl chr 7:111,312,427...111,325,283
JBrowse link
G Dnal4-ps1 dynein, axonemal, light chain 4, pseudogene 1 IEA KEGG rno:05016 NCBI chr20:21,723,177...21,724,458
Ensembl chr20:21,723,200...21,724,462
Ensembl chr20:21,723,200...21,724,462
JBrowse link
G Dnali1 dynein, axonemal, light intermediate chain 1 IEA KEGG rno:05016 NCBI chr 5:137,318,475...137,327,313
Ensembl chr 5:137,318,477...137,327,336
JBrowse link
G Ep300 E1A binding protein p300 IEA KEGG rno:05016 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Gnaq G protein subunit alpha q IEA KEGG rno:05016 NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
JBrowse link
G Gpx1 glutathione peroxidase 1 IEA KEGG rno:05016 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 IEA KEGG rno:05016 NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B IEA KEGG rno:05016 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
JBrowse link
G Grm1 glutamate metabotropic receptor 1 IEA KEGG rno:05016 NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
JBrowse link
G Grm5 glutamate metabotropic receptor 5 IEA KEGG rno:05016 NCBI chr 1:141,310,069...141,884,980
Ensembl chr 1:141,312,368...141,882,274
JBrowse link
G Hap1 huntingtin-associated protein 1 IEA KEGG rno:05016 NCBI chr10:85,277,890...85,286,126
Ensembl chr10:85,277,890...85,286,126
JBrowse link
G Hdac1 histone deacetylase 1 IEA KEGG rno:05016 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
JBrowse link
G Hdac1l histone deacetylase 1-like IEA KEGG rno:05016 NCBI chr 9:80,452,615...80,454,615
Ensembl chr 9:80,453,139...80,454,593
JBrowse link
G Hdac2 histone deacetylase 2 IEA KEGG rno:05016 NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
JBrowse link
G Hip1 huntingtin interacting protein 1 IEA KEGG rno:05016 NCBI chr12:21,133,364...21,267,796
Ensembl chr12:21,133,406...21,267,725
JBrowse link
G Htt huntingtin IEA
ISO
KEGG
RGD
PMID:26938440 PMID:21163446 rno:05016, RGD:11062152, RGD:11062153 NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070
JBrowse link
G Ift57 intraflagellar transport 57 IEA KEGG rno:05016 NCBI chr11:51,051,520...51,124,909
Ensembl chr11:51,059,611...51,124,812
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 IEA KEGG rno:05016 NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
JBrowse link
G Meg3 maternally expressed 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr 6:128,491,808...128,524,010 JBrowse link
G Mir132 microRNA 132 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr10:60,023,696...60,023,796
Ensembl chr10:60,023,696...60,023,796
JBrowse link
G Mir22 microRNA 22 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr10:60,307,039...60,307,133
Ensembl chr10:60,307,039...60,307,133
JBrowse link
G Mir222 microRNA 222 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006
JBrowse link
G Mir448 microRNA 448 ISO up-regulated RGD PMID:21035445 RGD:11041745 NCBI chr  X:110,829,918...110,830,029
Ensembl chr  X:110,829,918...110,830,029
JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 IEA KEGG rno:05016 NCBI chr  X:116,424,223...116,427,875
Ensembl chr  X:116,424,223...116,428,633
JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 IEA KEGG rno:05016 NCBI chr 9:93,007,034...93,041,825
Ensembl chr 9:93,007,042...93,042,560
JBrowse link
G Ndufa10l1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex 10-like 1 IEA KEGG rno:05016 NCBI chr 6:59,879,819...59,881,252
Ensembl chr 6:59,879,312...59,881,241
JBrowse link
G Ndufa11 NADH:ubiquinone oxidoreductase subunit A11 IEA KEGG rno:05016 NCBI chr 9:1,550,487...1,554,546
Ensembl chr 9:1,550,468...1,555,601
JBrowse link
G Ndufa12 NADH:ubiquinone oxidoreductase subunit A12 IEA KEGG rno:05016 NCBI chr 7:28,771,330...28,798,316
Ensembl chr 7:28,771,330...28,798,315
JBrowse link
G Ndufa13-ps1 NADH:ubiquinone oxidoreductase subunit A13, pseudogene 1 IEA KEGG rno:05016 NCBI chr 7:30,370,156...30,370,625
Ensembl chr 7:30,370,154...30,370,588
JBrowse link
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 IEA KEGG rno:05016 NCBI chr18:28,355,774...28,357,863
Ensembl chr18:28,355,774...28,358,076
JBrowse link
G Ndufa3 NADH:ubiquinone oxidoreductase subunit A3 IEA KEGG rno:05016 NCBI chr 1:65,597,567...65,600,197
Ensembl chr 1:65,597,578...65,600,235
JBrowse link
G Ndufa4 Ndufa4, mitochondrial complex associated IEA KEGG rno:05016 NCBI chr 4:40,002,216...40,009,384
Ensembl chr 4:40,002,216...40,023,920
JBrowse link
G Ndufa5 NADH:ubiquinone oxidoreductase subunit A5 IEA KEGG rno:05016 NCBI chr 4:52,997,327...53,005,685
Ensembl chr 4:52,995,546...53,005,598
JBrowse link
G Ndufa6 NADH:ubiquinone oxidoreductase subunit A6 IEA KEGG rno:05016 NCBI chr 7:113,866,382...113,870,239
Ensembl chr 7:113,866,382...113,870,239
JBrowse link
G Ndufa7 NADH:ubiquinone oxidoreductase subunit A7 IEA KEGG rno:05016 NCBI chr 7:14,609,283...14,622,064
Ensembl chr 7:14,609,146...14,631,976
JBrowse link
G Ndufa8 NADH:ubiquinone oxidoreductase subunit A8 IEA KEGG rno:05016 NCBI chr 3:19,386,062...19,402,090
Ensembl chr 3:19,386,065...19,402,071
JBrowse link
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 IEA KEGG rno:05016 NCBI chr 4:159,659,242...159,688,034
Ensembl chr 4:159,659,242...159,688,018
JBrowse link
G Ndufab1 NADH:ubiquinone oxidoreductase subunit AB1 IEA KEGG rno:05016 NCBI chr 1:176,644,696...176,658,131
Ensembl chr 1:176,644,703...176,658,099
JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 IEA KEGG rno:05016 NCBI chr10:13,749,273...13,751,434
Ensembl chr10:13,749,275...13,751,442
JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 IEA KEGG rno:05016 NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062
JBrowse link
G Ndufb2 NADH:ubiquinone oxidoreductase subunit B2 IEA KEGG rno:05016 NCBI chr 4:68,367,526...68,374,609
Ensembl chr15:46,536,062...46,536,851
Ensembl chr 4:46,536,062...46,536,851
JBrowse link
G Ndufb3 NADH:ubiquinone oxidoreductase subunit B3 IEA KEGG rno:05016 NCBI chr 9:60,129,240...60,139,452
Ensembl chr 9:60,129,154...60,139,446
JBrowse link
G Ndufb4 NADH:ubiquinone oxidoreductase subunit B4 IEA KEGG rno:05016 NCBI chr11:63,063,723...63,070,426
Ensembl chr11:63,063,795...63,070,425
JBrowse link
G Ndufb4l1 NADH:ubiquinone oxidoreductase subunit B4-like 1 IEA KEGG rno:05016 NCBI chr14:6,365,872...6,366,282
Ensembl chr14:6,365,869...6,366,261
JBrowse link
G Ndufb4l3 NADH:ubiquinone oxidoreductase subunit B4 like 3 IEA KEGG rno:05016 NCBI chr 1:87,479,867...87,480,354
Ensembl chr 1:87,479,905...87,480,294
JBrowse link
G Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 IEA KEGG rno:05016 NCBI chr 2:115,519,248...115,533,589
Ensembl chr 2:115,519,154...115,533,589
JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 IEA KEGG rno:05016 NCBI chr 5:55,400,543...55,410,110
Ensembl chr 5:55,400,543...55,410,181
JBrowse link
G Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 IEA KEGG rno:05016 NCBI chr19:24,568,241...24,572,579
Ensembl chr19:24,568,241...24,572,579
JBrowse link
G Ndufb8 NADH:ubiquinone oxidoreductase subunit B8 IEA KEGG rno:05016 NCBI chr 1:243,408,656...243,413,715
Ensembl chr 1:243,408,619...243,413,817
JBrowse link
G Ndufb9 NADH:ubiquinone oxidoreductase subunit B9 IEA KEGG rno:05016 NCBI chr 7:90,480,948...90,487,367
Ensembl chr 7:90,436,621...90,488,009
JBrowse link
G Ndufc2 NADH:ubiquinone oxidoreductase subunit C2 IEA KEGG rno:05016 NCBI chr 1:151,711,965...151,718,188
Ensembl chr 1:151,711,901...151,718,189
JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 IEA KEGG rno:05016 NCBI chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893
JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 IEA KEGG rno:05016 NCBI chr13:83,654,402...83,671,474
Ensembl chr13:83,654,406...83,671,420
JBrowse link
G Ndufs3 NADH:ubiquinone oxidoreductase core subunit S3 IEA KEGG rno:05016 NCBI chr 3:76,876,646...76,883,824
Ensembl chr 3:76,876,646...76,883,824
JBrowse link
G Ndufs4 NADH:ubiquinone oxidoreductase subunit S4 IEA KEGG rno:05016 NCBI chr 2:45,951,327...46,061,829
Ensembl chr 2:45,951,313...46,061,846
JBrowse link
G Ndufs5 NADH:ubiquinone oxidoreductase subunit S5 IEA KEGG rno:05016 NCBI chr 5:135,974,029...135,979,705
Ensembl chr 5:135,974,034...135,979,603
Ensembl chr14:135,974,034...135,979,603
Ensembl chr 2:135,974,034...135,979,603
JBrowse link
G Ndufs6-ps1 NADH:ubiquinone oxidoreductase subunit S6, pseudogene 1 IEA KEGG rno:05016 NCBI chr 2:27,201,706...27,202,241
Ensembl chr 2:27,201,713...27,202,258
JBrowse link
G Ndufs7 NADH:ubiquinone oxidoreductase core subunit S7 IEA KEGG rno:05016 NCBI chr 7:9,452,556...9,460,135
Ensembl chr 7:9,450,392...9,460,195
JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 IEA KEGG rno:05016 NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511
JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 IEA KEGG rno:05016 NCBI chr 1:201,300,365...201,305,461
Ensembl chr 1:201,299,985...201,305,466
JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 IEA KEGG rno:05016 NCBI chr 9:105,690,454...105,710,669
Ensembl chr 9:105,690,455...105,710,713
JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 IEA KEGG rno:05016 NCBI chr20:9,612,462...9,621,622
Ensembl chr20:9,612,431...9,623,074
Ensembl chr13:9,612,431...9,623,074
JBrowse link
G Nrf1 nuclear respiratory factor 1 IEA KEGG rno:05016 NCBI chr 4:58,664,932...58,772,328
Ensembl chr 4:58,664,957...58,825,328
JBrowse link
G Plcb1 phospholipase C beta 1 IEA KEGG rno:05016 NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869
JBrowse link
G Plcb2 phospholipase C, beta 2 IEA KEGG rno:05016 NCBI chr 3:105,683,676...105,704,384
Ensembl chr 3:105,684,815...105,704,302
JBrowse link
G Plcb3 phospholipase C beta 3 IEA KEGG rno:05016 NCBI chr 1:204,143,257...204,160,384
Ensembl chr 1:204,144,956...204,160,228
JBrowse link
G Plcb4 phospholipase C, beta 4 IEA KEGG rno:05016 NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392
JBrowse link
G Polr2a RNA polymerase II subunit A IEA KEGG rno:05016 NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455
JBrowse link
G Polr2b RNA polymerase II subunit B IEA KEGG rno:05016 NCBI chr14:30,797,228...30,834,916
Ensembl chr14:30,797,228...30,834,916
JBrowse link
G Polr2c RNA polymerase II subunit C IEA KEGG rno:05016 NCBI chr19:10,158,153...10,164,935
Ensembl chr19:10,157,823...10,164,945
JBrowse link
G Polr2d RNA polymerase II subunit D IEA KEGG rno:05016 NCBI chr18:23,418,097...23,425,228
Ensembl chr18:23,418,097...23,425,228
JBrowse link
G Polr2e RNA polymerase II, I and III subunit E IEA KEGG rno:05016 NCBI chr 7:9,666,695...9,670,638
Ensembl chr 7:9,666,716...9,670,643
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F IEA KEGG rno:05016 NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
JBrowse link
G Polr2g RNA polymerase II subunit G IEA KEGG rno:05016 NCBI chr 1:205,689,160...205,692,537
Ensembl chr 1:205,689,160...205,692,686
JBrowse link
G Polr2h RNA polymerase II, I and III subunit H IEA KEGG rno:05016 NCBI chr11:80,192,017...80,197,468
Ensembl chr11:80,192,032...80,197,515
Ensembl chr10:80,192,032...80,197,515
JBrowse link
G Polr2i RNA polymerase II subunit I IEA KEGG rno:05016 NCBI chr 1:85,483,515...85,484,952
Ensembl chr 1:85,483,515...85,484,952
JBrowse link
G Polr2j RNA polymerase II subunit J IEA KEGG rno:05016 NCBI chr12:20,543,038...20,548,590
Ensembl chr12:20,543,038...20,548,594
JBrowse link
G Polr2l RNA polymerase II, I and III subunit L IEA KEGG rno:05016 NCBI chr 1:196,570,051...196,572,060 JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma IEA KEGG rno:05016 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEA KEGG rno:05016 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Ppid peptidylprolyl isomerase D IEA KEGG rno:05016 NCBI chr 2:164,727,803...164,740,168
Ensembl chr 2:164,727,779...164,740,221
JBrowse link
G Ppidl1 peptidylprolyl isomerase D-like 1 IEA KEGG rno:05016 NCBI chr 9:112,843,668...112,844,916
Ensembl chr 9:112,843,665...112,844,992
JBrowse link
G Rest RE1-silencing transcription factor IEA KEGG rno:05016 NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A IEA KEGG rno:05016 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B IEA KEGG rno:05016 NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C IEA KEGG rno:05016 NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D IEA KEGG rno:05016 NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238
JBrowse link
G Sin3a SIN3 transcription regulator family member A IEA KEGG rno:05016 NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192
JBrowse link
G Slc25a31 solute carrier family 25 member 31 IEA KEGG rno:05016 NCBI chr 2:123,695,387...123,711,275
Ensembl chr 2:123,695,408...123,710,795
JBrowse link
G Slc25a4 solute carrier family 25 member 4 IEA KEGG rno:05016 NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
JBrowse link
G Slc25a5 solute carrier family 25 member 5 IEA KEGG rno:05016 NCBI chr  X:116,031,896...116,034,963
Ensembl chr  X:116,031,803...116,034,967
JBrowse link
G Slc25a6 solute carrier family 25 member 6 IEA KEGG rno:05016 NCBI chr18:68,571,222...68,572,461
Ensembl chr18:68,571,300...68,572,199
JBrowse link
G Sod1 superoxide dismutase 1 IEA KEGG rno:05016 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod2 superoxide dismutase 2 IEA KEGG rno:05016 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Sp1 Sp1 transcription factor IEA KEGG rno:05016 NCBI chr 7:133,541,302...133,571,961
Ensembl chr 7:133,541,491...133,571,961
JBrowse link
G Syne3 spectrin repeat containing, nuclear envelope family member 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr 6:123,872,895...123,964,773
Ensembl chr 6:123,873,174...123,953,409
JBrowse link
G Tbp TATA box binding protein IEA KEGG rno:05016 NCBI chr 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016
JBrowse link
G Tbpl1 TATA-box binding protein like 1 IEA KEGG rno:05016 NCBI chr 1:22,777,892...22,803,305
Ensembl chr 1:22,778,459...22,803,122
Ensembl chr 1:22,778,459...22,803,122
JBrowse link
G Tbpl2 TATA box binding protein-like 2 IEA KEGG rno:05016 NCBI chr 3:6,771,825...6,793,281
Ensembl chr 3:6,772,419...6,793,231
JBrowse link
G Tfam transcription factor A, mitochondrial IEA KEGG rno:05016 NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
JBrowse link
G Tgm2 transglutaminase 2 IEA KEGG rno:05016 NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981
JBrowse link
G Tp53 tumor protein p53 IEA KEGG rno:05016 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tug1 taurine up-regulated 1 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr14:78,519,894...78,526,927
Ensembl chr14:78,522,506...78,526,927
JBrowse link
G Ucp1 uncoupling protein 1 IEA KEGG rno:05016 NCBI chr19:24,808,782...24,816,853
Ensembl chr19:24,808,783...24,816,852
JBrowse link
G Uqcrb ubiquinol-cytochrome c reductase binding protein IEA KEGG rno:05016 NCBI chr 7:63,814,784...63,820,150
Ensembl chr 7:63,814,797...63,820,150
JBrowse link
G Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 IEA KEGG rno:05016 NCBI chr 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480
JBrowse link
G Uqcrc2 ubiquinol cytochrome c reductase core protein 2 IEA KEGG rno:05016 NCBI chr 1:175,167,933...175,198,499
Ensembl chr 1:175,167,894...175,199,453
JBrowse link
G Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 IEA KEGG rno:05016 NCBI chr17:33,977,908...33,982,478
Ensembl chr17:33,977,921...33,982,479
JBrowse link
G Uqcrh ubiquinol-cytochrome c reductase hinge protein IEA KEGG rno:05016 NCBI chr 5:129,545,978...129,554,173
Ensembl chr 5:129,545,984...129,554,242
JBrowse link
G Uqcrq ubiquinol-cytochrome c reductase, complex III subunit VII IEA KEGG rno:05016 NCBI chr10:37,585,864...37,589,328
Ensembl chr10:37,586,888...37,589,169
JBrowse link
G Vdac1 voltage-dependent anion channel 1 IEA KEGG rno:05016 NCBI chr10:36,532,306...36,559,642
Ensembl chr10:36,532,244...36,559,640
JBrowse link
G Vdac2 voltage-dependent anion channel 2 IEA KEGG rno:05016 NCBI chr15:2,462,877...2,476,802
Ensembl chr15:2,463,056...2,476,553
JBrowse link
G Vdac3 voltage-dependent anion channel 3 IEA KEGG rno:05016 NCBI chr16:69,434,982...69,451,473
Ensembl chr16:69,435,005...69,451,471
JBrowse link

Additional Elements in Pathway:

(includes Gene Groups, Small Molecules, Other Pathways..etc.)
Object TypePathway ObjectPathway Object Description
Small Molecule3-HANA3-Hydroxyanthranilic acid
Small Molecule3-HK3-Hydroxykynurenine
Small MoleculeQUINQuinolinic acid
Small MoleculeKYNAQynurenic acid

Pathway Gene Annotations

Disease Annotations Associated with Genes in the Huntington disease pathway
Disease TermsGene Symbols
3-Methylcrotonyl-CoA carboxylase 1 deficiencyAp2m1 , Polr2h
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndromeSod2
abdominal aortic aneurysmCasp3 , Gpx1 , Sod2
abdominal obesity-metabolic syndromePparg , Ppargc1a
abdominal obesity-metabolic syndrome 1Bax
achondrogenesis type IACox8c
acoustic neuromaBdnf
acromesomelic dysplasia, Maroteaux typeClta , Dnai1 , Ndufb6
Acute Coronary SyndromeGpx1 , Sod2
Acute ErythroleukemiaTp53
acute kidney failureAtp5f1b , Bax , Hdac2 , Ndufb8 , Pparg , Ppargc1a , Sod1 , Tp53
acute kidney tubular necrosisSod2
Acute Liver FailureCasp3 , Casp8 , Casp9
Acute Lung InjuryBax , Casp3 , Casp8 , Pparg
acute lymphoblastic leukemiaBax , Casp8 , Crebbp , Gpx1 , Hdac1 , Hdac2 , Tp53
acute megakaryocytic leukemiaTp53
acute myeloid leukemiaCrebbp , Gpx1 , Plcb1 , Sod2 , Tp53
acute myocardial infarctionBax , Casp3 , Ndufb5 , Sdhb
acute necrotizing pancreatitisCasp3
acute promyelocytic leukemiaPparg
Adams-Oliver Syndrome 5Grin1
adenocarcinomaCasp8 , Pparg , Sod2 , Tp53
adenoid cystic carcinomaCrebbp , Ep300 , Tp53
adenomaTp53
adenosine deaminase deficiencyTp53
adenylosuccinase lyase deficiencyDnal4 , Ep300 , Ndufa6 , Polr2f
Adrenal Cortex NeoplasmsTp53
Adrenal Gland NeoplasmsTp53
Adrenal InsufficiencyBax
adrenocortical carcinomaTp53
adrenoleukodystrophySod2
adult respiratory distress syndromeSod2
adult T-cell leukemia/lymphomaTp53
age related macular degenerationPpargc1a
Agenesis of Corpus CallosumCrebbp , Ep300 , Sin3a
Aicardi-Goutieres Syndrome 1Gpx1 , Uqcrc1
Aicardi-Goutieres Syndrome 3Ndufs8 , Ndufv1
Alagille syndromePlcb1 , Plcb4
ALAGILLE SYNDROME 1Plcb1 , Plcb4
AlbuminuriaGnaq , Ppargc1a , Sod2
alcohol dependenceBdnf , Creb1
alcohol use disorderBdnf , Creb1 , Crebbp , Dlg4 , Ep300 , Grin1 , Grin2b , Hdac2 , Sod1
Alcohol-Related DisordersBdnf , Casp8
alcoholic cardiomyopathyPparg , Slc25a4
Alcoholic Fatty LiverSod1 , Sod2
Alcoholic IntoxicationBdnf
alcoholic liver cirrhosisSod2
Alcoholic Liver DiseasesSod1 , Sod2
allergic contact dermatitisCasp8
alopeciaBdnf
alopecia areataHdac1 , Hdac2
alpha thalassemiaGpx1
alpha thalassemia-X-linked intellectual disability syndromeCox7b
Alveolar Bone LossPparg
Alzheimer's diseaseAtp5f1a , Atp5f1d , Atp5pf , Atp5po , Bax , Bdnf , Casp3 , Casp8 , Casp9 , Cox7c , Crebbp , Dlg4 , Ep300 , Grin1 , Grin2b , Hdac2 , Itpr1 , Mir132 , Ndufa2 , Ndufa5 , Ndufa6 , Ndufb3 , Ndufb8 , Ndufs3 , Plcb1 , Pparg , Ppargc1a , Slc25a4 , Sod1 , Sod2 , Tbp , Tfam , Tp53 , Ucp1 , Uqcrc1
Alzheimer's Disease, Early-Onset, with Cerebral Amyloid AngiopathyAtp5pf
amblyopiaPpargc1a
amenorrheaCreb3l3 , Tbp
amnestic disorderBdnf , Creb1
amphetamine abuseBdnf , Creb1
Amyloid PlaquesBdnf
amyotrophic lateral sclerosisBax , Casp3 , Casp9 , Dctn1 , Nrf1 , Ppargc1a , Sod1 , Sod2 , Tfam , Tp53
amyotrophic lateral sclerosis type 1Atp5po , Crebbp , Dctn1 , Sod1 , Sod2
amyotrophic lateral sclerosis type 10Sod1
anaplastic astrocytomaTp53
anauxetic dysplasiaClta , Dnai1
anemiaGpx1 , Sod2
Angiomatoid Fibrous HistiocytomaCreb1
angiosarcomaTp53
Animal Disease ModelsGrin1 , Sod1 , Tfam , Tp53
Animal Mammary NeoplasmsSod1
AnorexiaGpx1
AnosmiaPolr2f
anterior segment dysgenesisItpr1
anti-basement membrane glomerulonephritisBax
antiphospholipid syndromePparg
anxiety disorderBdnf , Creb1 , Hdac2
Aortic CalcificationAtp5f1d , Sod1 , Sod2
aortic diseaseSod1 , Sod2
Arsenic PoisoningNdufb8 , Sod2 , Tp53
arteriosclerosisGpx1 , Ndufs6-ps1 , Pparg
asphyxia neonatorumSod1 , Sod2
asthmaBdnf , Hdac2 , Itpr1 , Sod1 , Sod2
astigmatismGrin2b
AtaxiaBdnf , Grin2b , Itpr1
ataxia telangiectasiaBax , Sdhd
atherosclerosisCasp3 , Pparg , Sod1 , Sod2 , Tp53
atopic dermatitisBdnf , Casp8
atrial fibrillationSod1
atrial heart septal defectCrebbp
attention deficit hyperactivity disorderBdnf , Grin2b , Grm1 , Grm5
atypical teratoid rhabdoid tumorTp53
Au-Kline SyndromeCrebbp
Auriculocondylar SyndromePlcb4
Auriculocondylar Syndrome 1Plcb4
Auriculocondylar Syndrome 2Plcb4
autism spectrum disorderBdnf , Creb1 , Crebbp , Dlg4 , Dnai1 , Dnai2 , Grin1 , Grin2b , Grm5 , Sin3a
autistic disorderAp2m1 , Bdnf , Cox7b , Gpx1 , Grin1 , Grin2b , Mir222 , Mir448 , Ndufa1 , Ndufa7 , Ndufb11 , Sin3a , Slc25a5 , Slc25a6 , Uqcrc2
autoimmune diseaseCasp8 , Sod2
autoimmune interstitial lung, joint, and kidney diseaseNdufs2 , Sdhc
autoimmune lymphoproliferative syndromeCasp8
autoimmune lymphoproliferative syndrome type 2BCasp8 , Ndufb3
Autoimmune Lymphoproliferative Syndrome, Type VCasp8 , Ndufb3
autosomal dominant cerebellar ataxiaEp300 , Itpr1
autosomal dominant distal hereditary motor neuronopathy 14Dctn1
autosomal dominant intellectual developmental disorderCltc , Grin2b
autosomal dominant intellectual developmental disorder 31Ndufa2
autosomal dominant intellectual developmental disorder 56Cltc
autosomal dominant intellectual developmental disorder 6Grin2b
Autosomal Dominant Intellectual Developmental Disorder 60Ap2m1
Autosomal Dominant Intellectual Developmental Disorder 62Dlg4
autosomal dominant intellectual developmental disorder 7Atp5po , Sod1
autosomal dominant intellectual developmental disorder 8Grin1
autosomal dominant nocturnal frontal lobe epilepsy 5Grin1
autosomal dominant nonsyndromic deafness 27Rest
autosomal dominant polycystic kidney diseasePparg
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2Slc25a4
autosomal dominant thrombophilia due to protein C deficiencyPolr2d
autosomal recessive distal hereditary motor neuronopathy 2Clta , Dnai1
Autosomal Recessive Dyskeratosis CongenitaTp53
autosomal recessive dyskeratosis congenita 3Tp53
autosomal recessive limb-girdle muscular dystrophy type 2JNdufa9
autosomal recessive nonsyndromic deafness 22Uqcrc2
autosomal recessive spinocerebellar ataxia 13Grm1
B-Cell Chronic Lymphocytic LeukemiaTp53
B-lymphoblastic leukemia/lymphomaTp53
B-lymphoblastic leukemia/lymphoma with hypodiploidySdha
BacteremiaSod2
bacterial infectious diseaseCasp3 , Casp8 , Casp9
bacterial meningitisBdnf
Balkan nephropathyTp53
Bannayan-Riley-Ruvalcaba syndromeSdhb
Bardet-Biedl syndromePolr2c
Barrett's esophagusPparg
basal cell carcinomaTp53
Behcet's diseaseSod1
benign epilepsy with centrotemporal spikesGrin1 , Plcb1
Bethlem Myopathy 1ANdufa10
BH4-deficient hyperphenylalaninemia ASdhd
bilateral breast cancerSdhb
bilirubin metabolic disorderSod2
Binge DrinkingGpx1 , Grm5
bipolar disorderBdnf , Grin2b , Ndufs7 , Ndufv2
bladder neck obstructionSod2
blood coagulation diseaseGnaq
Bloom syndromeCox5a , Plcb2 , Sin3a
body dysmorphic disorderHdac2
Body WeightBdnf
bone development diseaseTp53
Bone Marrow Failure Syndrome 5Tp53
Bone Marrow NeoplasmsTp53
bone osteosarcomaTp53
Bone Tissue NeoplasmsGrm1
borna diseaseBdnf
Bowen's DiseaseNrf1 , Ppargc1a , Tfam
Brain ContusionCasp3 , Casp8
brain diseaseNdufs4
brain edemaSod2
brain gliomaBax , Casp3
Brain HypoxiaEp300 , Itpr1
Brain Hypoxia-IschemiaBax , Casp3 , Casp8 , Casp9 , Grin1 , Grin2b , Nrf1 , Tfam
Brain InjuriesApaf1 , Atp5pd , Bax , Bdnf , Casp3 , Casp8 , Gpx1 , Mir132 , Ppargc1a , Sod1 , Sod2
brain ischemiaApaf1 , Bbc3 , Bdnf , Casp3 , Casp9 , Creb1 , Cycs , Gpx1 , Ppid , Sod1 , Sod2 , Tp53
Brain NeoplasmsSod2 , Tgm2 , Tp53
branched-chain keto acid dehydrogenase kinase deficiencyCox6a2
breast adenocarcinomaTp53
breast cancerBax , Casp3 , Casp8 , Casp9 , Gpx1 , Mir222 , Sdhb , Sdhc , Sod2 , Tp53
Breast Cancer, FamilialCasp8 , Ndufab1 , Sdha , Tp53
breast carcinomaCasp3 , Ep300 , Hdac1 , Tp53
Breast NeoplasmsBax , Casp8 , Ep300 , Gpx1 , Mir132 , Mir222 , Ndufs3 , Sod2 , Tgm2 , Tp53
bronchiectasisDnai1
bronchiolo-alveolar adenocarcinomaTp53
bronchitisHdac2
bronchopulmonary dysplasiaBax , Casp3 , Casp8 , Casp9 , Tp53
Brown-Vialetto-Van Laere syndrome 2Cyc1
Brugada syndrome 5Cox6b1 , Polr2i
Burkitt lymphomaBbc3
BurnsBax , Casp3 , Vdac2
CachexiaSlc25a4 , Tfam
Cadmium PoisoningGpx1 , Htt
Calcification of Aortic ValveTp53
calcinosisCasp3 , Gpx1 , Tp53
Canavan diseaseSod2
Cancer PainDlg4
Carbon Tetrachloride PoisoningGpx1
Carcinoid TumorMir222
carcinomaSod2 , Tp53
cardiac amyloidosisCrebbp
cardiac arrestEp300 , Itpr1 , Sod1
Cardiac ArrhythmiasSod2
Cardiac FibrosisMir222
Cardiogenic ShockSod2
CardiomegalyAtp5f1d , Cox5b , Ep300 , Gnaq , Hdac2 , Ndufs3 , Ppargc1a , Slc25a4 , Sod2
cardiomyopathyAtp5f1b , Ep300 , Ndufs2 , Ndufv2 , Sod1 , Sod2 , Tp53 , Uqcrfs1
CardiotoxicityTp53
Cardiovascular AbnormalitiesGnaq , Gpx1
cardiovascular system diseaseGpx1 , Pparg , Ppargc1a
Carney TriadSdha , Sdhb , Sdhc
Carney-Stratakis syndromeSdhb , Sdhc , Sdhd
carotid artery diseasePparg , Sod2 , Tp53
Carotid Artery InjuriesPparg , Ppargc1a , Sp1
Carotid Body TumorSdhb , Sdhd
Carotid Intimal Medial Thickness 1Pparg
carotid stenosisGpx1
cataractCasp3 , Casp9 , Gpx1 , Ndufb3 , Sod1 , Tp53
cataract 9 multiple typesNdufv3
Cecal NeoplasmsTp53
celiac diseaseTgm2
central nervous system diseaseSod2
Central Nervous System InfectionsSod2
Central Nervous System NeoplasmsTp53
cerebellar ataxiaGrm1 , Itpr1
cerebral creatine deficiency syndromeAtp5f1d , Ndufs7 , Polr2e
Cerebral HemorrhageBax , Bdnf , Casp3 , Casp8 , Casp9
cerebral infarctionGrin1
cerebral palsyGrin2b , Htt
Cerebral Visual Impairment and Intellectual DisabilityDlg4
cervical adenocarcinomaTp53
cervical cancerCasp3 , Ndufs6-ps1 , Tp53
cervical squamous cell carcinomaBax , Tp53
cervix uteri carcinoma in situHdac1 , Hdac2
Charcot-Marie-Tooth diseaseDctn1 , Dctn2 , Polr2f , Sdhc
Charcot-Marie-Tooth disease axonal type 2UDctn2
Charcot-Marie-Tooth disease dominant intermediate CDnali1 , Ndufs5
Charcot-Marie-Tooth disease dominant intermediate DSdhc
Charcot-Marie-Tooth disease intermediate typeSdhc
Charcot-Marie-Tooth disease recessive intermediate DCox6a1
Charcot-Marie-Tooth disease type 1Sdhc
Charcot-Marie-Tooth disease type 1BSdhc
Charcot-Marie-Tooth disease type 2Dctn1
Charcot-Marie-Tooth disease type 2ISdhc
Charcot-Marie-Tooth disease type 4ESdhc
CHARGE syndromeEp300 , Tp53
Chemical and Drug Induced Liver InjuryBax , Casp8 , Itpr1 , Mir132 , Mir22 , Mir222 , Ndufs3 , Polr2g , Pparg , Sod1 , Sod2
chemical colitisCasp3
Chemotherapy-Induced Febrile NeutropeniaTp53
cherubismHtt
ChloracneCycs
cholangiocarcinomaCycs , Tp53
cholesteatoma of middle earTp53
choroid plexus carcinomaTp53
choroid plexus papillomaTp53
Choroidal NeovascularizationSod1
Chromosome 11, Partial Trisomy 11qSdhd
chromosome 15q24 deletion syndromeSin3a
chromosome 16p12.1 deletion syndromeUqcrc2
Chromosome 17 DeletionTp53
chromosome 18p deletion syndromeNdufv2
chromosome 1p36 deletion syndromeCasp9 , Sdhb
chromosome 2q37 deletion syndromeNdufa10
Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MBHip1
Chronic Allograft NephropathyPparg
Chronic HepatitisCasp3 , Gpx1 , Sod1
Chronic Intermittent HypoxiaBax
chronic kidney diseaseGpx1 , Ppargc1a
chronic lymphocytic leukemiaTp53
chronic myeloid leukemiaGpx1
chronic obstructive pulmonary diseaseCasp3 , Casp8 , Grin2b , Hdac2 , Ppargc1a , Tp53
Chronic PainBdnf
chronic progressive external ophthalmoplegiaSlc25a4 , Sod1 , Sod2
chronic ulcer of skinPlcb3
Chronobiology DisordersPparg
Ciliary Motility DisordersDnai1
clear cell adenocarcinomaTp53
clear cell renal cell carcinomaAtp5mc2 , Atp5pb , Atp5po , Bax , Ep300 , Tp53
cleft palateMeg3
cocaine abuseCreb1
cocaine dependenceBdnf , Creb1
Cocaine-Related DisordersBdnf , Creb1 , Grin1 , Grm5
cognitive disorderBdnf , Grin1 , Grin2b , Hdac2 , Meg3 , Pparg
Cognitive DysfunctionTp53
Cohen syndromeCox6c
colitisAtp5f1d , Bdnf , Ppargc1a
colon adenocarcinomaBax
colon cancerApaf1 , Casp3 , Gpx1 , Mir22 , Pparg
colon carcinomaBax , Ep300 , Pparg , Tp53
Colon DiverticulumTp53
Colonic NeoplasmsBax , Casp3 , Hdac2 , Plcb1 , Pparg , Sod2 , Tp53
Colonic PolypsHdac2
color blindnessBdnf
colorectal adenocarcinomaTp53
colorectal cancerBax , Casp9 , Cox5a , Ep300 , Gpx1 , Hdac1 , Mir222 , Plcb2 , Sin3a , Tp53
colorectal carcinomaEp300 , Tp53
Colorectal NeoplasmsBax , Casp8 , Crebbp , Ep300 , Pparg , Sod2 , Sp1 , Tp53
combined oxidative phosphorylation deficiency 11Tp53
combined oxidative phosphorylation deficiency 22Atp5f1a
combined oxidative phosphorylation deficiency 8Sdhd
common variable immunodeficiencyDlg4 , Dnah2 , Polr2a , Tp53
common variable immunodeficiency 1Casp8 , Ndufb3
common variable immunodeficiency 4Ep300 , Ndufa6
communication disorderNdufa11
congenital central hypoventilation syndromeBdnf
congenital diaphragmatic herniaEp300 , Sod1 , Sod2
congenital disorder of glycosylation IdAp2m1 , Polr2h
congenital disorder of glycosylation InDnah1
congenital disorder of glycosylation type IIbDctn1
congenital disorder of glycosylation type IIcCreb3l1 , Ndufs3
congenital disorder of glycosylation type IIeNdufab1
congenital disorder of glycosylation type IIkRest
congenital disorder of glycosylation type IImNdufb11
congenital fibrosarcomaTp53
congenital generalized lipodystrophy type 2Pparg
congenital heart diseaseGnaq
congenital hypothyroidismAtp5pd , Ppargc1a
congenital merosin-deficient muscular dystrophy 1ATp53
congenital myasthenic syndrome 18Plcb1 , Plcb4
congenital myasthenic syndrome 2ADlg4 , Polr2a , Tp53
Congenital MydriasisItpr1
congenital myopathy 5Ndufa9
congestive heart failureBax , Casp3 , Creb1 , Ep300 , Gnaq , Pparg , Ppargc1a , Sod1 , Sod2 , Tp53 , Ucp1
ConstipationMir222
contact dermatitisCasp8 , Sod1
Contrast-Induced NephropathyCasp3
Copper-Overload CirrhosisCasp3
corneal neovascularizationPparg
coronary artery diseaseGpx1 , Pparg , Sod1 , Tp53
coronary restenosisTp53
COVID-19Ap2s1 , Atp5f1b , Atp5f1c , Atp5mc3 , Atp5pb , Clta , Cox5a , Gpx1 , Ndufb5 , Ndufs4 , Ndufs7 , Pparg , Sdhd , Vdac1
Cowden syndromeSdhb
Craniofacial AbnormalitiesApaf1 , Ep300 , Gnaq , Sin3a , Tp53
Craniosynostosis Syndrome, Autosomal RecessiveGrin2b
Crohn's diseaseGpx1 , Pparg
cryptorchidismCasp3
Currarino syndromeAp2m1 , Ndufb5 , Polr2h
cutaneous leishmaniasisSod1
cyclic hematopoiesisAtp5f1d , Ndufs7 , Polr2e
cystic fibrosisDctn4 , Ndufs1
cystitisBdnf , Sod1 , Sod2
cytochrome-c oxidase deficiency diseaseCox6b1 , Cox8a
D-2-hydroxyglutaric aciduria 1Ndufa10
Danon diseaseNdufa1
DeafnessBdnf , Polr2c , Polr2f
DehydrationHap1
delta beta-thalassemiaAp2a2 , Polr2l
dementiaBax
demyelinating diseaseHdac1 , Tp53
Deoxyguanosine Kinase DeficiencyTfam
depressive disorderAtp5pd , Bax , Bdnf , Creb1 , Gpx1 , Ndufb7 , Sod1 , Uqcrb
developmental and epileptic encephalopathyAp2a2 , Polr2c , Polr2l
developmental and epileptic encephalopathy 1Grin1 , Plcb1
developmental and epileptic encephalopathy 101Grin1
developmental and epileptic encephalopathy 12Ap2a1 , Plcb1 , Plcb4
developmental and epileptic encephalopathy 14Grin1
developmental and epileptic encephalopathy 18Ep300
developmental and epileptic encephalopathy 25Dlg4
developmental and epileptic encephalopathy 27Grin2b
developmental and epileptic encephalopathy 30Ndufv3
developmental coordination disorderNdufs4 , Sod1
Developmental Delay with Variable Intellectual Impairment and Behavioral AbnormalitiesNdufa6
Developmental DisabilitiesCltc , Creb3l1 , Crebbp , Grin1 , Grin2b , Grm1
Developmental DiseaseCltc , Grin2b , Polr2a
developmental disorder of mental healthNdufs7
Diabetes ComplicationsCasp9
diabetes mellitusCasp3 , Itpr1 , Mir222 , Pparg , Sod1
diabetic angiopathyCasp3 , Gpx1 , Sod1 , Sod2
Diabetic CardiomyopathiesBax , Casp3 , Casp8 , Casp9 , Slc25a4
diabetic encephalopathyPparg
Diabetic NephropathiesAtp5f1b , Bdnf , Casp3 , Casp8 , Casp9 , Creb1 , Ep300 , Gpx1 , Hdac2 , Ndufs3 , Pparg , Ppargc1a , Sod1 , Sod2 , Tp53 , Ucp1 , Vdac1 , Vdac2
diabetic neuropathyBdnf , Casp3 , Grm5
diabetic retinopathyBdnf , Casp3 , Casp9 , Ep300 , Pparg , Ppargc1a , Sod1
Diamond-Blackfan anemiaDnah2 , Tp53
Diastolic DysfunctionNdufb5
DICER1 syndromeCox8c
diffuse large B-cell lymphomaCltc , Crebbp , Sod2 , Tp53
diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtypeSdha , Tp53
DiGeorge syndromeTp53
dilated cardiomyopathyBax , Casp3 , Casp8 , Casp9 , Creb1 , Gnaq , Gpx1 , Itpr1 , Ppargc1a , Sdha , Slc25a4 , Sod2 , Tp53 , Ucp1
dilated cardiomyopathy 1GGSdha
dilated cardiomyopathy 1HSlc25a4
dilated cardiomyopathy 1IISdhd
disease of cellular proliferationSod2 , Tp53
disease of metabolismPparg
Disease ProgressionNdufa2 , Ndufs1 , Ndufv1 , Sod1 , Sod2 , Sp1 , Tp53
Diseases of the AgedPpargc1a
distal arthrogryposis type 1AClta , Dnai1 , Ndufb6
dopamine transporter deficiency syndromeSdha
Down syndromeSod1
drug dependenceCreb1
Drug EruptionsBdnf
drug-induced hepatitisMir22
Drug-induced NeutropeniaSod2 , Tp53
Drug-Related Side Effects and Adverse ReactionsSod1 , Tp53
dry eye syndromeSod1
Ductal CarcinomaTp53
ductal carcinoma in situTp53
DwarfismEp300 , Polr2e , Sin3a , Tp53
dyskeratosis congenitaDlg4 , Dnah2 , Polr2a , Tp53
DyslipidemiasMir222 , Pparg
dystoniaCox6b1 , Dctn1 , Grin2b , Ndufv2
early infantile epileptic encephalopathyAp2a2 , Polr2c , Polr2l
early-onset dystonia and/or spastic paraplegiaAtp5mc3
EdemaCasp3 , Casp8 , Casp9
egg allergyGrin2b
Ehlers-Danlos syndrome dermatosparaxis typeCltb
Ellis-Van Creveld syndromeHtt
Emery-Dreifuss muscular dystrophyPolr2f
EmphysemaHdac2 , Tp53
end stage renal diseasePparg
endometrial adenocarcinomaTp53
endometrial cancerTp53
endometrial carcinomaTp53
Endometrial Intraepithelial NeoplasiaTp53
Endometrial NeoplasmsEp300 , Hdac1 , Hdac2 , Tp53
endometriosisBax , Hdac1 , Hdac2
endometritisCasp3 , Casp9
EndotoxemiaAtp5f1a , Bax , Casp3 , Casp9 , Ep300 , Pparg , Sod2
epidermolysis bullosa simplex with muscular dystrophyCyc1
epilepsyAtp5po , Bdnf , Crebbp , Gpx1 , Grin1 , Grin2b , Grm1 , Itpr1 , Ndufb10 , Ndufb3 , Plcb1 , Sin3a , Vdac1 , Vdac2
epilepsy with generalized tonic-clonic seizuresBdnf
episodic ataxia type 1Ndufa9
Episodic Ataxia Type 9Grin2b
esophageal cancerTp53
esophageal carcinomaEp300 , Tp53
Esophageal NeoplasmsBax , Bbc3 , Casp8 , Sod2 , Tgm2 , Tp53
Esophageal StenosisSod2
esophagitisSod2
esophagus adenocarcinomaCasp8 , Sod2 , Tp53
esophagus squamous cell carcinomaCasp8 , Crebbp , Ep300 , Sod2 , Tp53
essential hypertensionAtp5pf
exfoliation syndromeSod2
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial HyperostosisCox4i2
Experimental ArthritisBax
Experimental Autoimmune EncephalomyelitisBdnf , Casp3 , Casp8 , Casp9
Experimental Autoimmune MyocarditisCasp3 , Casp8 , Casp9 , Pparg
Experimental ColitisAtp5f1a
Experimental Diabetes MellitusAtp5f1a , Atp5f1b , Atp5pd , Atp5pf , Bax , Bdnf , Casp3 , Casp8 , Casp9 , Ep300 , Gpx1 , Grin1 , Grin2b , Hdac1 , Hdac2 , Ndufs2 , Ndufs3 , Plcb3 , Pparg , Ppargc1a , Sod1 , Sod2 , Tp53 , Vdac1
Experimental Liver CirrhosisApaf1 , Creb1 , Hip1 , Pparg , Slc25a4
Experimental Liver NeoplasmsBbc3 , Tp53
Experimental Mammary NeoplasmsApaf1 , Bax , Casp3 , Casp8 , Casp9 , Sod2 , Tp53
Experimental NeoplasmsTp53
Experimental Radiation InjuriesCasp3 , Casp8 , Casp9 , Sod1 , Sod2
Experimental SeizuresUqcrfs1
extrinsic allergic alveolitisSod2
Eye AbnormalitiesApaf1
Eye BurnsPparg
Eye InjuriesPparg
Eye NeoplasmsTp53
Facial Nerve InjuriesNdufa5
facioscapulohumeral muscular dystrophySlc25a4
familial adenomatous polyposisHdac2 , Sod2
familial adenomatous polyposis 1Dctn4 , Ndufa2 , Uqcrq , Vdac1
Familial Amyloid PolyneuropathiesCrebbp
familial hypertrophic cardiomyopathyDlg4
familial hypocalciuric hypercalcemia 3Ap2s1
familial melanomaDctn2 , Dnah1 , Tp53
familial multiple nevi flammeiGnaq
familial partial lipodystrophyPparg
familial partial lipodystrophy type 3Pparg
Familial Prostate CancerCasp8
Farber lipogranulomatosisSod2
FatigueSod1
Febrile SeizuresGrin1
Female InfertilityTp53
Femoral FracturesMir222
fetal alcohol spectrum disorderGrin2b , Hdac2
Fetal Growth RetardationAtp5f1a , Atp5f1b , Bax , Casp3 , Grin2b , Hdac1 , Hdac2 , Pparg , Ppargc1a , Sin3a , Sod1
FeverSod2
fibromaGrm1
FibrosisPparg , Sod2
Fluoride PoisoningAtp5f1e , Atp5po
focal epilepsyBdnf , Tgm2
focal segmental glomerulosclerosisCasp9 , Gnaq
follicular lymphomaCrebbp
Follicular Thyroid CancerPparg
fragile X syndromeGrm1
fragile X-associated tremor/ataxia syndromeSod1
frontotemporal dementiaDctn1
frontotemporal dementia and/or amyotrophic lateral sclerosis 6Clta , Dnai1 , Ndufb6
Frontotemporal Lobar DegenerationBdnf
Funnel ChestTp53
galactosemiaClta , Dnai1 , Ndufb6
gallbladder cancerTp53
gallbladder carcinomaTp53
Gallbladder NeoplasmsTp53
GAND syndromeCreb3l4
gastric adenocarcinomaCrebbp , Gpx1 , Tp53
gastric ulcerCasp3
gastroesophageal adenocarcinomaMir222
Gastrointestinal HemorrhageBax
gastrointestinal stromal tumorCreb3l4 , Mir222 , Ndufs2 , Sdha , Sdhb , Sdhc
Generalized EpilepsyGrin2b
genetic diseaseAp2a1 , Ap2a2 , Ap2b1 , Ap2m1 , Ap2s1 , Apaf1 , Atp5f1a , Atp5f1b , Atp5f1c , Atp5f1d , Atp5mc1 , Atp5mc2 , Atp5mc3 , Atp5pb , Atp5pd , Atp5pf , Atp5po , Bax , Bbc3 , Bdnf , Casp3 , Casp8 , Casp9 , Clta , Cltb , Cltc , Cox4i1 , Cox4i2 , Cox5a , Cox5b , Cox6a1 , Cox6a2 , Cox6b1 , Cox6b2 , Cox6c , Cox7a2 , Cox8c , Creb1 , Creb3l1 , Creb3l2 , Creb3l3 , Creb3l4 , Crebbp , Cyc1 , Dctn1 , Dctn2 , Dctn4 , Dlg4 , Dnah1 , Dnah2 , Dnah3 , Dnai1 , Dnai2 , Dnal1 , Dnal4 , Dnali1 , Ep300 , Gnaq , Gpx1 , Grin1 , Grin2b , Grm1 , Grm5 , Hap1 , Hdac1 , Hdac2 , Hip1 , Htt , Ift57 , Itpr1 , Ndufa1 , Ndufa10 , Ndufa11 , Ndufa12 , Ndufa2 , Ndufa3 , Ndufa4 , Ndufa5 , Ndufa6 , Ndufa7 , Ndufa8 , Ndufa9 , Ndufab1 , Ndufb10 , Ndufb11 , Ndufb2 , Ndufb3 , Ndufb4 , Ndufb5 , Ndufb6 , Ndufb7 , Ndufb8 , Ndufb9 , Ndufs1 , Ndufs2 , Ndufs3 , Ndufs4 , Ndufs5 , Ndufs7 , Ndufs8 , Ndufv1 , Ndufv2 , Ndufv3 , Nrf1 , Plcb1 , Plcb2 , Plcb3 , Plcb4 , Polr2a , Polr2b , Polr2c , Polr2d , Polr2e , Polr2f , Polr2h , Polr2i , Polr2j , Polr2l , Pparg , Ppargc1a , Ppid , Rest , Sdha , Sdhb , Sdhd , Sin3a , Slc25a31 , Slc25a4 , Slc25a5 , Sod1 , Sod2 , Sp1 , Syne3 , Tbp , Tbpl1 , Tbpl2 , Tfam , Tgm2 , Ucp1 , Uqcrb , Uqcrc1 , Uqcrc2 , Uqcrfs1 , Uqcrh , Uqcrq , Vdac1 , Vdac2 , Vdac3
Genetic Predisposition to DiseaseGpx1 , Sod1
Genitopatellar SyndromeVdac2
gestational diabetesGpx1 , Itpr1 , Sod2
Gillespie syndromeItpr1
Gingival Fibromatosis 1Rest
gingival fibromatosis 5Rest
glaucomaBax , Bdnf , Crebbp , Hdac1
glioblastomaCrebbp , Pparg , Tgm2 , Tp53
GliosisBdnf , Sod1
glomerulonephritisEp300 , Pparg
glomerulosclerosisPparg
Glomus Jugulare TumorSdhd
glucose intolerancePpargc1a
Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due toGpx1
glycine encephalopathyGpx1
graft-versus-host diseaseTp53
Graves ophthalmopathyPparg
Graves' diseaseTp53
guanidinoacetate methyltransferase deficiencyNdufs7
hairy cell leukemiaGpx1
head and neck cancerTp53
Head and Neck NeoplasmsGpx1 , Tp53
head and neck squamous cell carcinomaCasp8 , Crebbp , Ep300 , Mir222 , Sod2 , Tp53
Hearing LossBdnf , Polr2f , Sod1
Hearing Loss, Noise-InducedBdnf , Sod1 , Sod2
heart diseaseAtp5pf , Bax , Casp3 , Casp8 , Casp9 , Ep300 , Hdac1 , Ppargc1a
heart valve diseaseCasp3
Helicobacter InfectionsMir222
hematologic cancerTp53
HemimegalencephalyGrin1
HemolysisGpx1 , Sod1
hemolytic anemiaSod2
hemorrhagic diseaseCycs
Hemorrhagic ShockCasp3 , Casp8 , Sod2 , Tfam
hepatoblastomaEp300 , Tp53
hepatocellular carcinomaAtp5pb , Atp5pd , Bax , Casp3 , Casp8 , Casp9 , Crebbp , Ep300 , Gpx1 , Hdac2 , Mir22 , Mir222 , Pparg , Sod1 , Sod2 , Tp53
hepatorenal syndromeSod1
Hereditary Adrenocortical CarcinomaTp53
hereditary breast ovarian cancer syndromeEp300 , Polr2c , Tp53
Hereditary Neoplastic SyndromesDctn4 , Ndufa2 , Sdha , Sdhb , Sdhc , Sdhd , Tp53 , Uqcrq , Vdac1
Hereditary PancreatitisCasp9
Hereditary Paraganglioma-Pheochromocytoma SyndromesSdha , Sdhb , Sdhc , Sdhd
hereditary renal cell carcinomaSdha
hereditary spastic paraplegia 30Ndufa10
hereditary spastic paraplegia 75Cox6b1 , Polr2i
heroin dependenceBdnf , Creb1
Herpes Simplex Encephalitis 1Slc25a4
high grade gliomaCox8a , Plcb3 , Pparg , Sod1 , Tp53
Hirschsprung Disease 1Crebbp , Polr2f
Hirschsprung's diseaseCrebbp , Polr2f
Hittner Hirsch Kreh SyndromeEp300
holoprosencephalyCreb1 , Cyc1
homocystinuriaNdufv3
human immunodeficiency virus infectious diseaseBax
Huntington's diseaseBax , Bdnf , Casp3 , Casp8 , Casp9 , Creb1 , Crebbp , Cycs , Dlg4 , Ep300 , Gpx1 , Grin2b , Grm5 , Hap1 , Hdac1 , Htt , Ift57 , Itpr1 , Meg3 , Mir132 , Mir22 , Mir222 , Mir448 , Nrf1 , Plcb3 , Polr2a , Ppargc1a , Sin3a , Sod2 , Syne3 , Tbp , Tfam , Tug1 , Ucp1
hydrocephalusSin3a
HyperalgesiaBdnf , Dlg4 , Ep300 , Grin1 , Grin2b , Itpr1 , Sin3a
hyperandrogenismPparg
HypercholesterolemiaCasp3 , Casp9
hyperglycemiaCasp8 , Gpx1 , Ppargc1a , Sod1 , Sp1
hyperhomocysteinemiaGpx1 , Grin2b , Sod2
hyperinsulinismGpx1
Hypermetabolism due to Defect in MitochondriaAtp5f1b
HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2Atp5f1b
HyperoxiaBdnf , Sod2
hyperphosphatasia with impaired intellectual development syndrome 2Clta , Dnai1
Hyperphosphatemic Familial Tumoral Calcinosis 1Ndufa9
HyperplasiaBax
hypertensionAtp5f1a , Bax , Casp3 , Casp8 , Casp9 , Cox5b , Creb1 , Ep300 , Gpx1 , Pparg , Sod1 , Sod2 , Tgm2 , Tp53 , Ucp1
hypertensive encephalopathyBdnf
HyperthermiaGpx1
hyperthyroidismGpx1 , Ppargc1a , Sod1 , Sod2
HypertriglyceridemiaNdufb6 , Ppargc1a , Sod2
HYPERTRIGLYCERIDEMIA 1Creb3l3
HYPERTRIGLYCERIDEMIA 2Creb3l3
hypertrophic cardiomyopathyCasp3 , Ndufs1 , Ndufs2 , Slc25a4 , Tp53 , Uqcrc1
hypoglycemiaCreb1 , Grin2b , Sod2
Hypogonadism and Testicular AtrophyTp53
hypoparathyroidism-deafness-renal disease syndromeAtp5f1c
Hypopharyngeal NeoplasmsSod2
HypotensionGrin2b , Sod1
HypothermiaSod1
hypothyroidismAtp5po , Bdnf , Gpx1 , Sod1 , Sod2
HypoventilationDctn1
HypoxiaAtp5f1a , Atp5f1b , Bdnf , Casp3 , Grin2b , Itpr1 , Nrf1 , Ppargc1a , Sod1 , Sod2 , Tfam
idiopathic generalized epilepsyCrebbp , Ndufb10
idiopathic pulmonary fibrosisEp300 , Sdha
ileusMir222
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeNdufb11
IMMUNODEFICIENCY 15Vdac3
immunodeficiency 15BVdac3
immunodeficiency 39Ap2a2 , Polr2l
immunodeficiency 42Creb3l4
impotenceBax , Casp3
inclusion body myositisSod2
infantile histiocytoid cardiomyopathyNdufb11
infantile Refsum diseaseCreb3l1
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1Cltc
InfarctionPolr2a
infectious mononucleosisSod2
infertilityDnai1 , Polr2c
InflammationBdnf , Mir22 , Pparg , Sod1 , Tfam
inherited metabolic disorderNdufs1 , Ndufs2 , Uqcrb
inner ear diseaseBdnf
Insulin ResistanceCasp3 , Casp8 , Mir222 , Pparg , Ppargc1a , Sod2 , Ucp1
intellectual disabilityAtp5f1a , Bdnf , Cltc , Cox8a , Creb3l1 , Crebbp , Dlg4 , Dnah3 , Dnal1 , Ep300 , Grin1 , Grin2b , Grm5 , Itpr1 , Ndufa10 , Ndufa6 , Ndufc2 , Ndufs3 , Ndufs7 , Ndufs8 , Ndufv1 , Ndufv2 , Plcb3 , Polr2a , Polr2f , Polr2g , Sdhd , Sin3a
intermediate coronary syndromeBdnf
intermittent claudicationBax , Bbc3 , Casp3
INTERSTITIAL LUNG AND LIVER DISEASEDctn2
interstitial lung diseaseBdnf , Sod2
Intervertebral Disc DisplacementBdnf
Intestinal Carcinoid TumorsSdhd
intestinal diseaseBax , Casp3 , Sod2
Intestinal NeoplasmsBax
Intestinal Reperfusion InjuryAtp5f1d , Casp3 , Casp9
invasive ductal carcinomaSod2
iron deficiency anemiaGpx1 , Sod1
Iron OverloadGpx1
irritable bowel syndromeBdnf
ischemiaBax , Cycs , Pparg , Sod1 , Sod2 , Tp53
Islet Cell Tumor SyndromeSdhb , Sdhc , Sdhd
Joubert syndrome 1Cltc , Grin1
Kabuki Syndrome 2Mir222
Kagami-Ogata syndromeMeg3
Kallmann syndromePolr2f
Kaposi's sarcomaTp53
Kartagener syndromeDnah1 , Dnai1 , Dnai2 , Dnal1
Kashin-Beck DiseaseBax
Kearns-Sayre syndromePpargc1a , Tfam
keratoconusBdnf
keratosisTp53
Keratosis Palmoplantaris with Periodontopathia and OnychogryposisGrm5
Keshan diseaseGpx1
Kidney CalculiSod1
kidney cancerPpargc1a
kidney diseaseCasp3 , Casp8 , Casp9 , Sod2
kidney failurePparg , Ppargc1a
Kidney NeoplasmsSdhb , Sod2
Kidney Reperfusion InjuryApaf1 , Bax , Casp3 , Ep300 , Ndufb8 , Ppargc1a
Kleefstra syndrome 1Grin1
Klippel-Feil syndrome 1Uqcrb
Klippel-Trenaunay syndromeGnaq
Knee OsteoarthritisBax
Kohlschutter-Tonz syndromeCrebbp
Kuhnt-Junius degenerationSod2
lactic acidosisAtp5f1a , Ndufs4 , Uqcrfs1
Landau-Kleffner syndromeGrin2b
Language Development DisordersGrin1
laryngeal squamous cell carcinomaGpx1
larynx cancerGpx1
late onset Parkinson's diseaseTbp
Leber hereditary optic neuropathyNdufs2 , Sod2 , Tp53
Leber Hereditary Optic Neuropathy, Autosomal Recessive 2Ndufs2
Left Ventricular HypertrophyAtp5f1d , Atp5pf , Pparg , Ppargc1a , Slc25a4 , Tgm2
Leigh diseaseAtp5po , Grin1 , Ndufa10 , Ndufa12 , Ndufa2 , Ndufa9 , Ndufs1 , Ndufs2 , Ndufs3 , Ndufs4 , Ndufs7 , Ndufs8 , Ndufv1 , Sdha , Sdhc , Sod2
leiomyomaBax
leukemiaGpx1 , Tp53
leukocyte adhesion deficiency 3Cox8a , Plcb3 , Polr2g
LeukoencephalopathiesBdnf
leukostasisPparg
Lewy body dementiaPpargc1a , Sod2
Li-Fraumeni syndromeDlg4 , Dnah2 , Polr2a , Tp53
Li-Fraumeni syndrome 1Tp53
Li-Fraumeni-Like SyndromeTp53
linear skin defects with multiple congenital anomalies 1Cox7b , Ndufb11
linear skin defects with multiple congenital anomalies 2Cox7b
linear skin defects with multiple congenital anomalies 3Ndufb11
Lip NeoplasmsTp53
lipid storage diseasePparg
lipodystrophyPparg
liver cirrhosisCasp3 , Casp8 , Casp9 , Hdac2 , Mir222 , Sod2 , Tgm2 , Tug1
liver diseaseSod1
Liver InjuryAtp5f1a , Atp5f1b , Atp5pf , Gpx1
Liver NeoplasmsGpx1 , Pparg , Tp53
Liver Reperfusion InjuryBax , Casp3 , Casp8 , Casp9 , Sod1
long QT syndromePlcb4
Lopes-Maciel-Rodan SyndromeHtt
low tension glaucomaBdnf , Sod1 , Tp53
lung adenocarcinomaAtp5pd , Crebbp , Ep300 , Sod2 , Tp53
lung cancerCasp8 , Gpx1 , Mir222 , Sod2
lung carcinomaMir222
lung diseaseSod2
Lung NeoplasmsCasp8 , Cltb , Gpx1 , Mir222 , Tp53
lung non-small cell carcinomaApaf1 , Bax , Bbc3 , Casp3 , Casp8 , Casp9 , Cycs , Gnaq , Gpx1 , Mir222 , Sdha , Sdhc , Sod2 , Tp53
lung oat cell carcinomaTp53
Lung Reperfusion InjuryBax , Casp3 , Crebbp
lung sarcomatoid carcinomaTp53
lung small cell carcinomaCrebbp , Ep300 , Tp53
lung squamous cell carcinomaCrebbp , Cycs , Ep300 , Gpx1 , Tp53
Lymphatic MetastasisCasp9 , Cycs , Pparg , Sod2 , Tp53
lymphomaTp53
lymphoproliferative syndrome 2Ndufa9
Lynch syndromeCox7a2l
MacrocephalyGrin1
macular degenerationBax , Ppargc1a , Sod1 , Sod2
major depressive disorderBdnf , Sod2
male infertilityBax , Dnai1 , Sod2 , Tp53
malignant astrocytomaTp53
malignant fibrous histiocytomaPpargc1a
malignant mesotheliomaSod2 , Tp53
Manganese PoisoningHtt
Marfan syndromeSod1 , Sod2
Marfanoid Mental Retardation Syndrome, AutosomalCrebbp , Dlg4
marginal zone lymphomaTp53
maturity-onset diabetes of the youngTgm2
maturity-onset diabetes of the young type 1Pparg
medulloblastomaCrebbp , Ep300 , Tp53
megacolonNdufs1 , Ppid
melancholic depressionHap1
melanomaCasp8 , Crebbp , Ep300 , Gnaq , Hdac2 , Plcb4 , Pparg , Ppargc1a , Sdhd , Sod2 , Tp53
MELAS syndromeNdufs1 , Sod1 , Sod2
membranoproliferative glomerulonephritisEp300
Memory DisordersBdnf , Creb1 , Hdac2
meninges sarcomaTp53
Menke-Hennekam SyndromeCrebbp
Menke-Hennekam Syndrome 1Crebbp
Menke-Hennekam Syndrome 2Ep300
Menkes diseaseCox7b
Mercury PoisoningGpx1
MesotheliomaSod2 , Tp53
Metabolic Brain Diseases, InbornNdufs4
metabolic dysfunction-associated steatohepatitisMir222 , Sod1 , Sod2
metabolic dysfunction-associated steatotic liver diseaseAtp5f1a , Atp5f1b , Gpx1 , Mir22 , Pparg , Ppargc1a , Sod2
Metabolic SyndromeBdnf , Pparg , Ppargc1a , Sod2
methylmalonic acidemiaCycs , Sod2
Methylmalonyl-CoA Epimerase DeficiencyDctn1
MHC class II deficiencyCreb3l4
microcephalyEp300 , Sdhd , Sin3a
Microcephaly, Epilepsy, and Diabetes SyndromeAtp5f1a
Microsatellite InstabilityBax , Hdac2
middle cerebral artery infarctionAp2b1 , Apaf1 , Bax , Bdnf , Casp3 , Casp9 , Creb1 , Grin1 , Hdac2 , Mir132 , Sod1 , Sod2
Mirror Movements 3Dnal4
mismatch repair cancer syndromeTp53
mitochondrial complex I deficiencyNdufa1 , Ndufa10 , Ndufa11 , Ndufa2 , Ndufb10 , Ndufb11 , Ndufb3 , Ndufs1 , Ndufs2 , Ndufs3 , Ndufs4 , Ndufs7 , Ndufs8 , Ndufv1 , Ndufv2
mitochondrial complex II deficiencySdha , Sdhb , Sdhd
Mitochondrial Complex II Deficiency Nuclear Type 1Sdha , Sdhb , Sdhd
Mitochondrial Complex II Deficiency Nuclear Type 3Sdhd
Mitochondrial Complex II Deficiency Nuclear Type 4Sdhb
mitochondrial complex III deficiency nuclear type 1Cyc1 , Uqcrb , Uqcrc2 , Uqcrq
Mitochondrial Complex III Deficiency Nuclear Type 10Uqcrfs1
Mitochondrial Complex III Deficiency Nuclear Type 11Uqcrh
mitochondrial complex III deficiency nuclear type 3Uqcrb
mitochondrial complex III deficiency nuclear type 4Uqcrq
mitochondrial complex III deficiency nuclear type 5Uqcrc2
mitochondrial complex III deficiency nuclear type 6Cyc1
mitochondrial complex IV deficiency nuclear type 1Cox6b1
mitochondrial complex IV deficiency nuclear type 15Cox8a
mitochondrial complex IV deficiency nuclear type 16Cox4i1
mitochondrial complex IV deficiency nuclear type 18Cox6a2
mitochondrial complex IV deficiency nuclear type 20Cox5a
mitochondrial complex IV deficiency nuclear type 21Ndufa4
mitochondrial complex IV deficiency nuclear type 7Cox6b1
mitochondrial complex V (ATP synthase) deficiency nuclear type 3Atp5f1d , Atp5f1e
mitochondrial complex V (ATP synthase) deficiency nuclear type 4Atp5f1a
mitochondrial complex V (ATP synthase) deficiency nuclear type 4AAtp5f1a
mitochondrial complex V (ATP synthase) deficiency nuclear type 4BAtp5f1a
mitochondrial complex V (ATP synthase) deficiency nuclear type 5Atp5f1d
mitochondrial complex V (ATP synthase) deficiency nuclear type 7Atp5po
mitochondrial DNA depletion syndrome 12aSlc25a4
mitochondrial DNA depletion syndrome 12bSlc25a4
mitochondrial DNA depletion syndrome 15Tfam
mitochondrial encephalomyopathyNdufs2 , Ndufv2
mitochondrial metabolism diseaseAtp5f1a , Atp5f1d , Casp8 , Ndufa6 , Ndufb7 , Ndufc2 , Slc25a4 , Sod2 , Tp53 , Uqcrfs1
mitochondrial myopathySlc25a4 , Vdac1
MLS syndromeNdufb11
Moebius syndromePlcb2
mood disorderDctn1
morbid obesityBdnf , Pparg
morphine dependenceBax , Bdnf , Creb1
morphine withdrawal syndromeBdnf , Creb1
motor neuron diseaseSod1
Mouth NeoplasmsSod2 , Tp53 , Vdac2
movement diseaseHtt , Itpr1
mucolipidosis type IVNdufa7
mucosulfatidosisItpr1
Multi-Infarct DementiaBax
Multicystic Dysplastic KidneyEp300
Multiple AbnormalitiesEp300
multiple chemical sensitivitySod2
multiple endocrine neoplasia type 2ASdha
multiple myelomaCrebbp , Gpx1 , Sod2 , Tp53
Multiple Organ FailureTfam
multiple sclerosisBdnf , Hdac1 , Ndufs2
Muscle WeaknessSod1
muscular atrophyApaf1 , Sod1
muscular diseaseSdha
Muscular Dystrophy, AnimalPpargc1a
Mycoplasma InfectionsCasp3
mycosis fungoidesSod2
myelodysplastic syndromeCrebbp , Hdac1 , Plcb1 , Tp53
myelofibrosisTp53
myeloid leukemiaHdac2
myeloid leukemia associated with Down SyndromeTp53
myeloid neoplasmGpx1 , Tp53
myelomeningoceleSod1 , Sod2
myocardial infarctionAtp5f1d , Atp5po , Bax , Casp3 , Creb1 , Gpx1 , Ndufb5 , Plcb1 , Plcb3 , Ppargc1a , Sod1 , Sod2 , Tp53 , Vdac1 , Vdac2
Myocardial IschemiaBax , Cox5b , Sod2 , Uqcrfs1
Myocardial Reperfusion InjuryAtp5f1d , Bax , Casp3 , Casp8 , Casp9 , Crebbp , Mir222 , Ndufs1 , Pparg , Ppargc1a , Slc25a4 , Sod1 , Sod2 , Tp53 , Vdac1
myoclonic dystonia 26Polr2f
myopathySdha
myopiaSlc25a4
nasal cavity cancerTp53
Nasal PolypsBdnf , Sod1 , Sod2
Nasopharyngeal NeoplasmsTp53
nasopharynx carcinomaGpx1 , Mir132 , Mir222 , Tp53
NecrosisSod1 , Sod2
Neoplasm InvasivenessSod2 , Sp1
Neoplasm MetastasisBax , Casp3 , Creb1 , Mir222 , Sod2 , Sp1 , Tp53
Neoplasm MicrometastasisCycs
Neoplasm Recurrence, LocalCreb3l4
Neoplastic Cell TransformationMeg3 , Sod1 , Sod2 , Sp1 , Tp53
neovascular inflammatory vitreoretinopathyBdnf
nephritisCasp8
nephroblastomaRest , Tp53
nephronophthisis-like nephropathy 1Ep300
nephrosisGpx1 , Sod1
nephrotic syndromeGpx1 , Ppargc1a , Sod2
nephrotoxicityItpr1
Nerve DegenerationBax , Bdnf , Casp3 , Pparg , Sod1 , Sod2
Nerve InjuriesBdnf
Nerve Sheath NeoplasmsTp53
nervous system diseaseBdnf , Casp3 , Casp9 , Sod1 , Tp53
Nervous System Lead PoisoningEp300
Nervous System MalformationsCrebbp
Nervous System TraumaGrin2b
Neu-Laxova syndrome 2Gnaq
neural tube defectApaf1
NeuralgiaGrm5
neuroblastomaSdhc , Tp53
Neurodegeneration with Ataxia and Late-Onset Optic AtrophySdha
neurodegeneration with brain iron accumulation 2APolr2f
neurodegeneration with brain iron accumulation 5Ndufb11
neurodegenerative diseaseDctn1 , Itpr1 , Sod2
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIESPolr2a
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIESCrebbp
Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal RecessiveGrin1
Neurodevelopmental DisordersAp2m1 , Ap2s1 , Atp5mc2 , Atp5pf , Casp8 , Cltc , Cox7c , Creb1 , Crebbp , Dlg4 , Ep300 , Grin1 , Grin2b , Itpr1 , Mir222 , Ndufa2 , Ndufb11 , Ndufb3 , Ndufs1 , Ndufs4 , Polr2a , Sin3a , Sp1 , Uqcrq , Vdac1
Neurologic Gait DisordersSod1
neuronal ceroid lipofuscinosisAp2a2 , Polr2l , Sod2
neuronal ceroid lipofuscinosis 1Ppargc1a , Tfam
neuronal ceroid lipofuscinosis 7Slc25a31
neuropathyCox6a1 , Dctn1
newborn respiratory distress syndromeSod1
nicotine dependenceBdnf , Creb1 , Grin2b
Niemann-Pick disease type AItpr1
Nijmegen breakage syndromeSdhb
non-alcoholic fatty liverCreb1
non-Hodgkin lymphomaGpx1 , Tp53
nonphotosensitive trichothiodystrophy 5Ndufa1
Noonan syndromeApaf1
NSAID-EnteropathyCasp9
nuclear type mitochondrial complex I deficiency 1Ndufa10 , Ndufa11 , Ndufa2 , Ndufb11 , Ndufs1 , Ndufs2 , Ndufs3 , Ndufs4 , Ndufs7 , Ndufs8 , Ndufv1 , Ndufv2
nuclear type mitochondrial complex I deficiency 12Ndufa1
nuclear type mitochondrial complex I deficiency 13Ndufa2
nuclear type mitochondrial complex I deficiency 14Ndufa11
nuclear type mitochondrial complex I deficiency 2Ndufs8
nuclear type mitochondrial complex I deficiency 22Ndufa10
nuclear type mitochondrial complex I deficiency 23Ndufa12
nuclear type mitochondrial complex I deficiency 24Ndufb9
nuclear type mitochondrial complex I deficiency 25Ndufb3
nuclear type mitochondrial complex I deficiency 26Ndufa9
nuclear type mitochondrial complex I deficiency 3Ndufs7
nuclear type mitochondrial complex I deficiency 30Ndufb11
nuclear type mitochondrial complex I deficiency 32Ndufb8
nuclear type mitochondrial complex I deficiency 33Ndufa6
nuclear type mitochondrial complex I deficiency 35Ndufb10
Nuclear Type Mitochondrial Complex I Deficiency 36Ndufc2
Nuclear Type Mitochondrial Complex I Deficiency 37Ndufa8
Nuclear Type Mitochondrial Complex I Deficiency 39Ndufb7
nuclear type mitochondrial complex I deficiency 4Ndufv1
nuclear type mitochondrial complex I deficiency 5Ndufs1
nuclear type mitochondrial complex I deficiency 6Ndufs2
nuclear type mitochondrial complex I deficiency 7Ndufv2
nuclear type mitochondrial complex I deficiency 8Ndufs3
nutrition diseaseHap1
nutritional deficiency diseaseSod1
obesityAtp5f1b , Atp5f1c , Atp5f1d , Atp5mc2 , Bdnf , Cox7c , Cox8b , Cycs , Ep300 , Gpx1 , Ndufb6 , Nrf1 , Pparg , Ppargc1a , Sod1 , Sod2 , Tfam , Ucp1 , Uqcrc2
obsessive-compulsive disorderBdnf , Creb1
obstructive sleep apneaBdnf
ocular hypertensionSod1
Odontogenic MyxomaTp53
Olfaction DisordersPolr2f
opioid abuseCreb1 , Dlg4 , Grin1 , Grin2b
Opsoclonus-Myoclonus SyndromeSdha
optic atrophyNdufs3
Optic Nerve InjuriesBax , Bdnf , Ep300
optic neuritisSod2
Oral Lichen PlanusTp53
oral mucosa leukoplakiaTp53
oral squamous cell carcinomaGpx1 , Mir222 , Tp53
oral submucous fibrosisTp53
Orofaciodigital Syndrome XVIIIIft57
Oropharyngeal NeoplasmsTp53
osteoarthritisBax , Casp3 , Casp9 , Ndufs8 , Ndufv1 , Pparg , Sdha , Sod2 , Tgm2 , Vdac2
Osteoarthritis, ExperimentalCasp3 , Casp8
osteogenesis imperfecta type 16Creb3l1
osteopetrosisNdufs8
osteoporosisBax , Gpx1 , Sod2
osteosarcomaTp53
ovarian cancerSdhb , Sdhc , Sod2 , Tp53
ovarian carcinomaTp53
Ovarian NeoplasmsHdac1 , Hdac2 , Sod1 , Sod2 , Tp53
ovarian serous cystadenocarcinomaTp53
ovarian small cell carcinomaTp53
ovary serous adenocarcinomaTp53
Oxygen-Induced RetinopathyCasp3 , Pparg , Sod1 , Tug1
PainBdnf , Grin1 , Plcb1 , Pparg
Painful NeuropathyEp300
pancreatic adenocarcinomaTp53
pancreatic cancerApaf1 , Casp8 , Casp9 , Cycs , Pparg , Sod1 , Sod2 , Tgm2 , Tp53
pancreatic carcinomaTp53
pancreatic ductal carcinomaHdac1 , Pparg , Tp53
pancreatic intraductal papillary-mucinous neoplasmTp53
Pancreatic Intraepithelial NeoplasiaHdac1
pancreatitisCasp3 , Mir22 , Pparg
pancytopeniaTp53
papillary renal cell carcinomaTp53
papillomaSod2
papillomavirus infectious diseaseCasp8
paragangliomaSdha , Sdhb , Sdhc , Sdhd
Paragangliomas 1Sdhd
Paragangliomas 3Sdhb , Sdhc , Sdhd
Paragangliomas 4Sdhb , Sdhd
Paragangliomas 5Sdha
Paragangliomas with Sensorineural Hearing LossSdhd
ParalysisSod1
paranasal sinus benign neoplasmTp53
paraplegiaDctn2
ParaproteinemiasTp53
Parasitic Liver DiseasesTp53
parathyroid carcinomaCreb3l4 , Ndufs2 , Sdhc
Parkinson's diseaseApaf1 , Bdnf , Casp3 , Casp9 , Creb1 , Dlg4 , Gpx1 , Htt , Mir132 , Mir22 , Ndufb8 , Ndufs1 , Ndufs4 , Ndufv2 , Ppargc1a , Sdha , Sod1 , Sod2 , Tfam , Vdac1
Parkinson's disease 20Atp5po , Sod1
Parkinson's Disease, MitochondrialNdufv2
ParkinsonismApaf1 , Bdnf , Casp3 , Casp9 , Dctn1 , Ndufs3 , Ppargc1a , Tfam , Vdac1
PARKINSONISM WITH POLYNEUROPATHYUqcrc1
Pathological Protein AggregationSod1
PCWH syndromePolr2f
Pediatric Adrenocortical CarcinomaTp53
Penile NeoplasmsTp53
Perennial Allergic RhinitisPparg
perinatal necrotizing enterocolitisSod2
Peripheral Nerve InjuriesBdnf
peripheral nervous system diseaseCasp9 , Cox6a1 , Dctn1 , Sod2
Peritoneal AdhesionsSdha
peroxisome biogenesis disorder 3AAp2b1
Perry syndromeDctn1
persistent fetal circulation syndromeCox4i1
Peutz-Jeghers syndromePolr2e
Peyronie's diseaseHdac2
phenylketonuriaGrin2b
pheochromocytomaSdha , Sdhb , Sdhc , Sdhd
Phyllodes TumorTp53
Pick's diseaseCreb1
Pierson syndromeGpx1
pilocytic astrocytomaSdha
pituitary-dependent Cushing's diseasePparg
placental insufficiencyGrin1 , Grin2b , Ppargc1a
Plaque, AtheroscleroticMir222 , Ppargc1a , Sp1
plasma cell neoplasmTp53
pleomorphic xanthoastrocytomaCreb3l2 , Cycs , Hip1 , Ndufa5 , Ndufb2 , Nrf1 , Polr2j , Tp53
pleuropulmonary blastomaCox8c
polycystic kidney diseasePparg , Sod1
polycystic ovary syndromeAtp5f1b , Bax , Dlg4 , Mir222
polyneuropathySod2
PolyploidyTp53
Port-Wine StainGnaq
post-traumatic stress disorderBax , Bdnf , Casp9
Postoperative Cognitive DysfunctionBdnf , Creb1
pre-eclampsiaCrebbp , Gpx1 , Itpr1 , Pparg
pre-malignant neoplasmAtp5f1b , Bax , Casp3 , Casp8 , Casp9 , Sod2 , Tp53
prediabetes syndromePpargc1a , Ucp1
Premature AgingBax , Tp53
Premature BirthSod2
Prenatal Exposure Delayed EffectsBdnf , Creb1
PresbycusisBdnf , Sod1 , Sod2
primary biliary cholangitisPpargc1a , Sod2
primary ciliary dyskinesiaClta , Dnah1 , Dnai1 , Dnai2 , Dnal1 , Ndufb6 , Ndufv3
primary ciliary dyskinesia 1Dnai1
primary ciliary dyskinesia 16Dnal1
primary ciliary dyskinesia 32Sod2
primary ciliary dyskinesia 37Dnah1
primary ciliary dyskinesia 9Dnai2
primary coenzyme Q10 deficiency 7Grin1
primary cutaneous T-cell non-Hodgkin lymphomaBax , Mir22 , Tp53
primary hyperoxaluria type 1Ndufa10
primary immunodeficiency diseaseCasp8
Primary Lymphedema with MyelodysplasiaNdufb4
primary microcephalyDnah2
primary open angle glaucomaBdnf , Sod2 , Tp53
primary ovarian insufficiencyDnah1
primary ovarian insufficiency 16Polr2c
primary pulmonary hypertensionCreb1 , Hdac1 , Ndufs1 , Pparg
Primary Pulmonary Hypertension, 1Casp8 , Ndufb3
prion diseaseBax , Sod1
Progressive Microcephaly with Seizures and Cerebral and Cerebellar AtrophyUqcrc1
progressive myoclonus epilepsyNdufv3
progressive supranuclear palsySod1
proliferative diabetic retinopathyPparg
propionic acidemiaUqcrfs1
prostate adenocarcinomaCreb3l4 , Tp53
prostate cancerBax , Casp3 , Dnah3 , Ep300 , Grin1 , Plcb4 , Tp53 , Vdac1
Prostate Cancer, Hereditary, 1Tp53
prostate carcinomaBax , Hdac2
prostate carcinoma in situCreb3l4 , Hdac1
Prostatic NeoplasmsBax , Casp3 , Casp9 , Creb3l4 , Crebbp , Hdac1 , Itpr1 , Sod2 , Tp53
Protein DeficiencySod1
protein-energy malnutritionCox4i1
proteinuriaSod1
Pseudomonas InfectionsDctn4
pseudoxanthoma elasticumGpx1 , Sod2
psoriasisPparg , Sod2 , Tp53
Psychomotor DisordersVdac1
psychotic disorderBdnf , Grin1
PTEN hamartoma tumor syndromeSdhb
pterygiumTp53
Pulmonary Arterial HypertensionCasp8 , Creb1 , Ndufb3 , Sod2
Pulmonary AtresiaSdha
pulmonary emphysemaHdac2 , Ppargc1a
pulmonary fibrosisBdnf , Sod1
pulmonary hypertensionAtp5f1a , Atp5pf , Hdac1 , Hdac2 , Sod2 , Tp53
pulmonary sarcoidosisBdnf
Pyruvate Dehydrogenase E2 DeficiencySdhd
Radiation InjuriesBdnf , Sod2
Rafiq syndromeGrin1
RASopathyNdufb2
reactive arthritisSod2
Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular MalformationsNdufs8 , Ndufv1
Referred PainBdnf
renal artery obstructionSod1
renal cell carcinomaApaf1 , Atp5mc2 , Casp3 , Sdhb , Sdhd , Sod2 , Tgm2 , Tp53
Renal Cell Carcinoma 1Sdhb , Tp53
renal coloboma syndromeNdufb8
renal fibrosisPpargc1a , Sod2
Renal IschemiaApaf1
Reperfusion InjuryApaf1 , Bax , Bdnf , Casp3 , Casp8 , Casp9 , Ep300 , Gpx1 , Grin2b , Pparg , Sod1 , Sod2 , Tfam , Tp53
Respiration DisordersBdnf
Respiratory Tract GranulomaSod2
Respiratory Tract InfectionsBdnf
restrictive cardiomyopathySlc25a4
ReticulocytosisGpx1 , Sod2
Retina Reperfusion InjuryApaf1 , Bax , Bdnf , Hdac2 , Sod2
retinal degenerationBax , Bdnf , Sod1
retinal detachmentApaf1 , Casp3 , Casp8 , Casp9
retinal diseaseCasp3
Retinal NeovascularizationSod1
retinitis pigmentosaGrin2b , Sod1 , Sod2
retinopathy of prematuritySod1
RhabdomyolysisDlg4
rhabdomyosarcomaSdha , Sdhc , Tp53
rheumatic heart diseaseBax
rheumatoid arthritisHdac1 , Sod2
rhinitisBdnf
Right Ventricular HypertrophyBax , Hdac1 , Nrf1 , Ppargc1a
RNASET2-deficient cystic leukoencephalopathyNdufa2
Rubinstein-Taybi syndromeCrebbp , Ep300
salivary gland diseaseCasp3
SAPHO syndromeTp53
sarcoidosisSod2
sarcomaTp53
SarcopeniaAtp5f1a , Bax , Ppargc1a
Schistosomiasis MansoniSod1
schizophreniaAtp5f1c , Bdnf , Cox5a , Creb1 , Grin1 , Grin2b , Grm5 , Mir448 , Ndufa10 , Ndufv2 , Plcb1 , Ppargc1a , Sin3a , Tbp , Tp53 , Uqcrc2
sciatic neuropathyBdnf , Casp3 , Casp8 , Creb1 , Grin1 , Grin2b , Mir222 , Ppargc1a , Sod1
scoliosisCrebbp
scrapieBax , Casp3 , Casp9 , Sod1
Seasonal Allergic RhinitisBdnf
secondary Parkinson diseaseTfam
Segawa Syndrome, Autosomal RecessiveAp2a2 , Polr2l
Sengers syndromeSod2
senile cataractGpx1
sensorineural hearing lossBdnf , Slc25a4 , Sod2 , Tfam
SepsisCasp3 , Casp8 , Casp9 , Ep300 , Ndufb8 , Ppargc1a , Sod1 , Sod2
serous cystadenocarcinomaTp53
severe acute respiratory syndromeCasp3 , Casp9
severe combined immunodeficiencyVdac2
severe congenital neutropenia 3Creb3l4
severe congenital neutropenia 5Creb3l4
Sezary's diseaseCrebbp , Tp53
short-rib thoracic dysplasia 9 with or without polydactylyCrebbp , Ndufb10
sickle cell anemiaGpx1
sideroblastic anemiaSod2
Sjogren's syndromeBdnf
skeletal muscle cancerMir222
Skin AbnormalitiesApaf1 , Sod2
skin diseaseNdufb8 , Sod2
skin melanomaCrebbp , Gpx1 , Tp53
Skin NeoplasmsCasp8 , Sod2 , Sp1 , Tp53
sleep apneaTbp
Sleep DeprivationBdnf , Grin2b
Sleep Initiation and Maintenance DisordersPpargc1a
small cell carcinomaTp53
Sotos syndromeCltb
spastic ataxiaItpr1
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVESod1
spermatic cord torsionCasp3
spermatogenic failure 1Dnah1
spermatogenic failure 18Dnah1 , Dnah3
spermatogenic failure 33Dnah1
spermatogenic failure 45Dnah2
Spermatogenic Failure 83Dnali1
spinal cord diseaseSod1
Spinal Cord InjuriesApaf1 , Bax , Bdnf , Casp3 , Casp9 , Ppargc1a , Sod1 , Tbp , Tp53 , Tug1
Spinal Cord Reperfusion InjuryBdnf , Creb1
spinocerebellar ataxia 44Grm1
spinocerebellar ataxia type 15Itpr1
spinocerebellar ataxia type 17Atp5f1b , Tbp
spinocerebellar ataxia type 29Itpr1
Spinocerebellar AtaxiasEp300 , Grm1 , Itpr1 , Tbp
split hand-foot malformation 5Atp5mc3
spondyloarthropathyTp53
spondylometaphyseal dysplasia with corneal dystrophyPlcb3
Sporadic Papillary Renal Cell CarcinomaTp53
squamous cell carcinomaCrebbp , Ep300 , Gpx1 , Hdac1 , Hdac2 , Sod2 , Tp53 , Vdac2
ST Elevation Myocardial InfarctionAtp5mc2
status epilepticusBax , Bdnf , Casp3 , Casp8 , Grin1 , Grm1 , Grm5 , Sod2 , Tfam
steatotic liver diseaseCreb1 , Cycs , Gpx1 , Mir22 , Pparg , Ppargc1a , Sod1 , Sod2
Stevens-Johnson syndromeEp300
stomach cancerBax , Casp3 , Casp9 , Gpx1 , Hdac2 , Mir222 , Sod2 , Tp53
stomach carcinomaGpx1
Stomach NeoplasmsBdnf , Casp8 , Ndufa2 , Ndufs1 , Ndufv1 , Pparg , Sod2 , Tp53
stress-related disorderBdnf , Dlg4
StrokeCasp3 , Hdac1 , Hdac2 , Ndufc2 , Sod1
Sturge-Weber syndromeGnaq
Subacute Necrotizing Encephalopathy of Leigh, InfantileAtp5po , Ndufa10 , Ndufa12 , Ndufs1 , Ndufs3 , Ndufs4 , Ndufs7 , Ndufs8 , Ndufv1 , Sdha
Subarachnoid HemorrhageCasp3 , Casp9 , Pparg
substance dependenceCreb1
substance-induced psychosisSod2
substance-related disorderGrm5
Sudden Cardiac DeathSlc25a4
syndromic microphthalmia 3Ndufb5
syndromic X-linked intellectual disability 14Ndufa1
syndromic X-linked intellectual disability Cabezas typeNdufa1 , Slc25a5
syndromic X-linked intellectual disability Lubs typeCox7b , Mir222 , Mir448 , Ndufa1 , Ndufb11 , Slc25a5
synucleinopathyDctn1 , Dctn2
systemic lupus erythematosusEp300 , Pparg , Sod2
systemic sclerodermaBdnf
T-cell acute lymphoblastic leukemiaBax
T-cell non-Hodgkin lymphomaEp300 , Pparg , Tp53
Takotsubo CardiomyopathyPpargc1a
Tardive DyskinesiaSod2
tauopathyHdac1
temporal lobe epilepsyDlg4 , Grin2b , Grm1 , Grm5 , Hdac2 , Vdac2
teratomaBax , Creb3l1 , Crebbp
Testis Reperfusion InjuryApaf1 , Bax , Casp3 , Casp9
thrombocytopeniaCycs , Plcb2
Thrombocytopenia 4Cycs
Thumb DeformityCrebbp , Ep300
thymomaTp53
Thymus NeoplasmsTp53
thyroid gland anaplastic carcinomaSod2 , Tp53
thyroid gland carcinomaMir222
thyroid gland papillary carcinomaTp53
Thyroid NeoplasmsPparg , Sod2 , Tp53
thyroiditisBax
TinnitusBdnf
Tobacco Use DisorderBdnf
Tongue NeoplasmsMir222 , Sod2 , Tp53
tongue squamous cell carcinomaTp53
torsion dystonia 6Vdac3
toxic encephalopathyCasp3
toxoplasmosisBax
Tracheoesophageal FistulaPolr2b
transient cerebral ischemiaAtp5f1b , Bax , Bbc3 , Casp3 , Casp8 , Casp9 , Creb1 , Cycs , Ep300 , Grin2b , Htt , Itpr1 , Pparg , Sin3a , Sod1 , Sod2
transitional cell carcinomaApaf1 , Casp3 , Crebbp , Ep300 , Gpx1 , Tp53
transthyretin amyloidosisCrebbp , Tp53
Trauma and Stressor Related DisordersMir222
traumatic brain injuryCasp3 , Tp53
trichodontoosseous syndromeAtp5mc1
trichorhinophalangeal syndrome type INdufb9
Trigeminal Nerve InjuriesTp53
trigeminal neuralgiaGrin1
tuberous sclerosis 1Grin1
tuberous sclerosis 2Ndufb10
Tumor Predisposition Syndrome 1Dnah1
Turner syndromeSod1 , Sod2
type 1 diabetes mellitusCasp3 , Casp8 , Casp9 , Hdac1 , Hdac2 , Ppargc1a , Sod1 , Sod2 , Tbp
type 2 diabetes mellitusAtp5f1b , Bax , Bdnf , Casp3 , Casp8 , Casp9 , Ep300 , Gpx1 , Hdac1 , Hdac2 , Mir222 , Pparg , Ppargc1a , Sdhb , Sod1 , Sod2 , Ucp1
ulcerative colitisCasp3 , Gpx1 , Tp53
Ureteral CalculiSod1
ureteral obstructionCasp3 , Casp9
urinary bladder cancerAtp5f1d , Atp5mc2 , Bax , Casp3 , Casp9 , Crebbp , Ep300 , Gpx1 , Mir132 , Pparg , Sod1 , Sod2 , Tp53
Urinary Bladder NeoplasmTp53
Urogenital NeoplasmsTp53
Urologic NeoplasmsTp53
urticariaBdnf , Sod2
uterine cancerTp53
uterine carcinosarcomaTp53
Uterine Cervical NeoplasmsCasp8 , Crebbp , Ep300 , Hdac1 , Hdac2 , Tp53
uveal melanomaGnaq , Plcb4
uveitisSod2
Van der Hoeve Halbertsma Waardenburg Gualdi SyndromePolr2f
varicoceleCasp9
vascular dementiaAtp5f1a , Bdnf , Creb1 , Gpx1 , Grin1 , Grin2b , Tp53
vascular diseaseSod2
Venous ThrombosisGpx1
Ventricular Dysfunction, LeftSod2 , Vdac1
Ventricular Dysfunction, RightCreb1 , Ppargc1a
Ventricular RemodelingBax , Casp3
VertigoSlc25a4
very long chain acyl-CoA dehydrogenase deficiencyDlg4 , Dnah2 , Polr2a , Tp53
Vici syndromeAtp5f1a
Viral MyocarditisCasp3 , Casp8
visceral heterotaxyDnai1
Visceral PainBdnf
visual epilepsyApaf1 , Hdac2 , Plcb1 , Vdac1 , Vdac2
vitiligoSod2
von Hippel-Lindau diseaseSdhb
Vulvar Lichen SclerosusTp53
Vulvar NeoplasmsTp53
Waardenburg syndromePolr2f
Waardenburg syndrome type 1Polr2f
Waardenburg syndrome type 2APolr2f
Waardenburg syndrome type 2EPolr2f
Waardenburg syndrome type 4APolr2f
Waardenburg syndrome type 4CPolr2f
Weight GainNdufb9
Weight LossSod1
Weissenbacher-Zweymuller syndromePolr2a
West syndromePlcb1
Williams-Beuren syndromeDlg4
Wilms Tumor 6Rest
Wilson diseaseNdufb7
withdrawal disorderBdnf , Creb1 , Grin2b
X-linked epilepsy with variable learning disabilities and behavior disordersNdufb11
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasiaCox7b
X-linked severe congenital neutropeniaNdufb11
xeroderma pigmentosumTp53
Zellweger syndromeCreb3l1
ZTTK SyndromeAtp5po
Pathway Annotations Associated with Genes in the Huntington disease pathway